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[] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9GSR1-1.14.2130", "start_pos": 14, "end_pos": 2130, "uniprot_canonical_ac": "Q9GSR1-1", "length": 2130, "uniprot_id": "DPOZ_DROME", "protein_name": "DNA polymerase zeta catalytic subunit", "refseq_ac": "NP_524881", "refseq_name": "DNA polymerase zeta subunit 1", "gene_name": "PolZ1", "gene_names_uniprotkb": "PolZ1; CG1925; DNApol-zeta; DNApolZ1; Dmpolzeta; mus205; rev3", "gene_names_refseq": "154926_at; AAF59191; CG1925; DNApol-zeta; DhRev3; DmREV3; Dmel\\CG1925; Dmpolzeta; Mus205; PolZ1; Rev3; mus 205; mus(2)205; mus-205; mus205; rev3", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9GSR1", "url": "https://www.uniprot.org/uniprotkb/Q9GSR1" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "publication": [ { "title": "Isolation and genetic characterisation of the Drosophila homologue of (SCE)REV3, encoding the catalytic subunit of DNA polymerase zeta.", "journal": "Mutation research", "date": "2001", "authors": "Eeken JC, Romeijn RJ, de Jong AW, Pastink A, Lohman PH", "evidence": [ { "database": "UniProtKB", "id": "Q9GSR1", "url": "https://www.uniprot.org/uniprotkb/Q9GSR1" } ], "reference": [ { "type": "PubMed", "id": "11267835", "url": "https://glygen.org/publication/PubMed/11267835" } ] } ], "crossref": [ { "id": "Q9GSR1", "url": "https://www.uniprot.org/uniprotkb/Q9GSR1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "11267835", "url": "https://glygen.org/publication/PubMed/11267835", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "VRLVIADFYMEKPQFGMDPCYSELRGKEIKRVPVIRVFGGNSRGQKTCMHVHGVFPYLYIPYDKKDFESLERGILQMAMHLDKAINISLGQGSSNAQHVFKIQLVKGIPFYGYHRVEHQFLKIYMFNPRFVRRAANLLQSGAILSKNFSPHESHVPYILQFMIDYNLYGMSYVHVPLEVLKFRRNHDDDVIPYANVKQAQLLDITTAKKVACSALEVDVSSNFILNRFQLVAKSKSNHTNPGIEAIWNDEKLRRQKLVEKHTDAGDEEKAEAVPVLELPPTQERHQIEIAESDIFYRTALESKLMTLEQSTLSEQTLSDQTILPQATMQTTMPGTKAQKRRFNLQKLLANAVYPEECSQDQQQLLVNASFIQNHVTCGYSSSVSLSTSKDESDDLDETVVDEELILSLTQPHGAIPHDATLREEDLELLDALQLLEEQNESESHVDLDSSLAPLSQHKKFELTPELLDKETAATAALFDEDVDSDEDADQETRHDFSTVLDDVDELLLKLTQSQPAESKELKASSKLPQIDGADDRLQRTPIKSISSKSKSSPSKTPTTPIGQKSLPKSPRTPKTSAAKKYAPLALTIGSSSSKKSNDEFAGRPSNPRLSLQLDQGTGTGTLRPEISLRKKLAMSEMRRKSFEDSFVLLKNDCTPVRSTRRSTSNLDKTHIICSLTPRDRNPGLSDMFETEDGKQLPPKKVVRKTRWSTRNQDIESLPKAGCEIERPHRSEGSALDELKPRRSARHKVNSANPDECSSEIQTTGPRVTTTSLDRPQKKARLSQSPKENTKTSMNGTVALEKATKDSSSNSESPHQQENSVSEQIEYLESKPKKSDETARSCDEKLQRELIPQEPAGISPGDSANSTEEITFSPCHDEAIESDTESDYIVTKLRKTPNLKRLRWSIRSELLNKQFTPSSGIRPPETETTPQLSPKSNESNTPELMRSFYEHSLIVNSPSVFSDFLDSPEIHMDSPRSAPPSPDSNSFVIAPLELPPSYDEVVSGSRKMDIPEYEFQKPYYSNPSDVSKVTEVGFLVLHIPGNKLNDCDPFQSILGNDRGLASWRRRQLIAIGGLAMLQRHRGEQKVREYFSTQQRIAIEPAQLAPTWQEAKIWLKAKELLRQREEPKKSSDDIDSPIKIKRQKITMMLQAEEGDGGSGDEDAGEELDCSLSLTPLSQAKDKCKATPTSSKARETGKSRLKRGTRLSFIGSQDEEPPSSQSSEQSVSSSAAQAELDRSSFLRQLEGSSQDRQHDLSFGLSHATLDNTFGFKVNLENLQQAKADIDCNHLTIITLEVFVSTRGDLQPDPMHDEIRCLFYAIEHSLPDEKLPSKACGYIMVNTVQDLLSEGPFHGIDRDIEVQVVTSEAEAFEALLALCERWDADIYAGYEIEMSSWGYVIDRAKHLCFNIAPLLSRVPTQKVRDFVDEDREQFTDLDVEMKLCGRILLDVWRLMRSEIALTSYTFENVMYHILHKRCPWHTAKSLTEWFGSPCTRWIVMEYYLERVRGTLTLLDQLDLLGRTSEMAKLIGIQFYEVLSRGSQFRVESMMLRIAKPKNLVPLSPSVQARAHMRAPEYLALIMEPQSRFYADPLIVLDFQSLYPSMIIAYNYCFSTCLGRVEHLGGSSPFEFGASQLRVSRQMLQKLLEHDLVTVSPCGVVFVKREVREGILPRMLTEILDTRQMVKQSMKLHKDSSALQRILHSRQLGLKLMANVTYGYTAANFSGRMPSVEVGDSVVSKGRETLERAIKLVENNEEWKVRVVYGDTDSMFVLVPGRNRAEAFRIGEEIAKAVTEMNPQPVKLKLEKVYQPCMLQTKKRYVGYMYETADQEQPVYEAKGIETVRRDGCPAVAKMLEKVLRILFETQDVSKIKAYVCRQFTKLLSGRANLQDLIFAKEFRGLNGYKPTACVPALELTRKWMQKDPRHVPRRGERVPFIIVNGPPGMQLIRLVRSPHDILANEGHKINAIYYITKAIIPPLNRCLLLIGANVHDWFASLPRKLLMTPAVGTANELAGARGAKSTISQYFSTTSCVIDCGRQTKAGICPDCLKNATTCVVVLSDKTARLERGYQLTRQICQACCGRLGSLQCDSLDCPVLYVLEGKRRELQQIEHWNKLLEHHF", "start_aa": "V", "up_seq": "MAAAGEAIDGVYS", "down_seq": "", "mutagenesis": [ { "sequence_org": "VRLVIADFYMEKPQFGMDPCYSELRGKEIKRVPVIRVFGGNSRGQKTCMHVHGVFPYLYIPYDKKDFESLERGILQMAMHLDKAINISLGQGSSNAQHVFKIQLVKGIPFYGYHRVEHQFLKIYMFNPRFVRRAANLLQSGAILSKNFSPHESHVPYILQFMIDYNLYGMSYVHVPLEVLKFRRNHDDDVIPYANVKQAQLLDITTAKKVACSALEVDVSSNFILNRFQLVAKSKSNHTNPGIEAIWNDEKLRRQKLVEKHTDAGDEEKAEAVPVLELPPTQERHQIEIAESDIFYRTALESKLMTLEQSTLSEQTLSDQTILPQATMQTTMPGTKAQKRRFNLQKLLANAVYPEECSQDQQQLLVNASFIQNHVTCGYSSSVSLSTSKDESDDLDETVVDEELILSLTQPHGAIPHDATLREEDLELLDALQLLEEQNESESHVDLDSSLAPLSQHKKFELTPELLDKETAATAALFDEDVDSDEDADQETRHDFSTVLDDVDELLLKLTQSQPAESKELKASSKLPQIDGADDRLQRTPIKSISSKSKSSPSKTPTTPIGQKSLPKSPRTPKTSAAKKYAPLALTIGSSSSKKSNDEFAGRPSNPRLSLQLDQGTGTGTLRPEISLRKKLAMSEMRRKSFEDSFVLLKNDCTPVRSTRRSTSNLDKTHIICSLTPRDRNPGLSDMFETEDGKQLPPKKVVRKTRWSTRNQDIESLPKAGCEIERPHRSEGSALDELKPRRSARHKVNSANPDECSSEIQTTGPRVTTTSLDRPQKKARLSQSPKENTKTSMNGTVALEKATKDSSSNSESPHQQENSVSEQIEYLESKPKKSDETARSCDEKLQRELIPQEPAGISPGDSANSTEEITFSPCHDEAIESDTESDYIVTKLRKTPNLKRLRWSIRSELLNKQFTPSSGIRPPETETTPQLSPKSNESNTPELMRSFYEHSLIVNSPSVFSDFLDSPEIHMDSPRSAPPSPDSNSFVIAPLELPPSYDEVVSGSRKMDIPEYEFQKPYYSNPSDVSKVTEVGFLVLHIPGNKLNDCDPFQSILGNDRGLASWRRRQLIAIGGLAMLQRHRGEQKVREYFSTQQRIAIEPAQLAPTWQEAKIWLKAKELLRQREEPKKSSDDIDSPIKIKRQKITMMLQAEEGDGGSGDEDAGEELDCSLSLTPLSQAKDKCKATPTSSKARETGKSRLKRGTRLSFIGSQDEEPPSSQSSEQSVSSSAAQAELDRSSFLRQLEGSSQDRQHDLSFGLSHATLDNTFGFKVNLENLQQAKADIDCNHLTIITLEVFVSTRGDLQPDPMHDEIRCLFYAIEHSLPDEKLPSKACGYIMVNTVQDLLSEGPFHGIDRDIEVQVVTSEAEAFEALLALCERWDADIYAGYEIEMSSWGYVIDRAKHLCFNIAPLLSRVPTQKVRDFVDEDREQFTDLDVEMKLCGRILLDVWRLMRSEIALTSYTFENVMYHILHKRCPWHTAKSLTEWFGSPCTRWIVMEYYLERVRGTLTLLDQLDLLGRTSEMAKLIGIQFYEVLSRGSQFRVESMMLRIAKPKNLVPLSPSVQARAHMRAPEYLALIMEPQSRFYADPLIVLDFQSLYPSMIIAYNYCFSTCLGRVEHLGGSSPFEFGASQLRVSRQMLQKLLEHDLVTVSPCGVVFVKREVREGILPRMLTEILDTRQMVKQSMKLHKDSSALQRILHSRQLGLKLMANVTYGYTAANFSGRMPSVEVGDSVVSKGRETLERAIKLVENNEEWKVRVVYGDTDSMFVLVPGRNRAEAFRIGEEIAKAVTEMNPQPVKLKLEKVYQPCMLQTKKRYVGYMYETADQEQPVYEAKGIETVRRDGCPAVAKMLEKVLRILFETQDVSKIKAYVCRQFTKLLSGRANLQDLIFAKEFRGLNGYKPTACVPALELTRKWMQKDPRHVPRRGERVPFIIVNGPPGMQLIRLVRSPHDILANEGHKINAIYYITKAIIPPLNRCLLLIGANVHDWFASLPRKLLMTPAVGTANELAGARGAKSTISQYFSTTSCVIDCGRQTKAGICPDCLKNATTCVVVLSDKTARLERGYQLTRQICQACCGRLGSLQCDSLDCPVLYVLEGKRRELQQIEHWNKLLEHHF", "sequence_mut": "", "comment": "In mus205; hypersensitive to alkylating agents and UV, but not sensitive to ionising radiation. In somatic cells, no effect on methyl methane sulfonate-induced mutations and homologous recombination. In germ cells, no effect on mutability by X-rays, NQO and alkylating agents.", "evidence": [ { "database": "UniProtKB", "id": "Q9GSR1", "url": "https://www.uniprot.org/uniprotkb/Q9GSR1" }, { "database": "PubMed", "id": "11267835", "url": "https://glygen.org/publication/PubMed/11267835" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "14", "end_pos": "2130" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": 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"o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9GYU8-1.191.191", "start_pos": 191, "end_pos": 191, "uniprot_canonical_ac": "Q9GYU8-1", "length": 702, "uniprot_id": "NUP88_DROME", "protein_name": "Nuclear pore complex protein Nup88", "refseq_ac": "NP_524330", "refseq_name": "members only", "gene_name": "mbo", "gene_names_uniprotkb": "mbo; CG6819; Nup88", "gene_names_refseq": "1465/07; 1465/7; CG6819; DNup88; Dmel\\CG6819; Dnup 88; Dnup88; MBO; Mbo; NUP88; Nup88; anon-WO0118547.263; dNup88; l(3)05043; l(3)S146507; mbo; nup88", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9GYU8", "url": "https://www.uniprot.org/uniprotkb/Q9GYU8" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "publication": [ { "title": "Phosphoproteome analysis of Drosophila melanogaster embryos.", "journal": "Journal of proteome research", "date": "2008", "authors": "Zhai B, Villen J, Beausoleil SA, Mintseris J, Gygi SP", "evidence": [ { "database": "UniProtKB", "id": "Q9GYU8", "url": "https://www.uniprot.org/uniprotkb/Q9GYU8" }, { "database": "iPTMnet", "id": "Q9GYU8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9GYU8" } ], "reference": [ { "type": "PubMed", "id": "18327897", "url": "https://glygen.org/publication/PubMed/18327897" } ] } ], "crossref": [ { "id": "Q9GYU8", "url": "https://www.uniprot.org/uniprotkb/Q9GYU8", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "18327897", "url": "https://glygen.org/publication/PubMed/18327897", "database": "PubMed", "categories": [ "Other" ] }, { "id": "Q9GYU8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9GYU8", "database": "iPTMnet", "categories": [ "Other" ] } ], "site_seq": "S", "start_aa": "S", "up_seq": "SKLRHVWQVGPPVLRSGANN", "down_seq": "LCDFGELAVDFDIAPAAKPR", "phosphorylation": [ { "kinase_uniprot_canonical_ac": "", "kinase_gene_name": "", "residue": "Ser", "comment": "Phosphoserine", "evidence": [ { "database": "UniProtKB", "id": "Q9GYU8", "url": "https://www.uniprot.org/uniprotkb/Q9GYU8" }, { "database": "PubMed", "id": "18327897", "url": "https://glygen.org/publication/PubMed/18327897" }, { "database": "iPTMnet", "id": "Q9GYU8", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q9GYU8" } ], "site_lbl": "Ser191" } ], "all_sites": [ { "type": "phosphorylation", "site_list": [ { "start_pos": "191", "end_pos": "191" }, { "start_pos": "228", "end_pos": "228" }, { "start_pos": "231", "end_pos": "231" } ] } ], "categories": [ "phosphorylation_flag" ], "glycosylation": [], "mutagenesis": [], "snv": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": false, "phosphorylation_flag": true, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", 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"site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "icn3d_view": {}, "start_aa": "Asn", "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn962", "evidence": [ { "id": "Q9VZZ4", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprotkb/Q9VZZ4#ptm_processing" }, { "id": "PRU00498", "database": "PROSITE-ProRule", "url": "https://prosite.expasy.org/rule/PRU00498" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "1120", "end_pos": "1120" }, { "start_pos": "1213", "end_pos": "1213" }, { "start_pos": "419", "end_pos": "419" }, { "start_pos": "616", "end_pos": "616" }, { "start_pos": "673", "end_pos": "673" }, { "start_pos": "682", "end_pos": "682" }, { "start_pos": "731", "end_pos": "731" }, { "start_pos": "767", "end_pos": "767" }, { "start_pos": "962", "end_pos": "962" } ] } ], "categories": [ "glycosylation_flag" ], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], 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"GEEEKQDTEELKEVPTLHKQIKDLKDKLEYSERSLKTREEEVDILKEKLKLCQEREKSVESTVNPELDQLRIFLDEKDKHIKDLMDTLKNFHDDQQRYIKDTSNFSEDQIAKLAADLNRTEATNKIYHTQMEALRRQLANVTQREKQARDLSQSLRQQLLKRPVVSIKTELNARVKNENQLKRIQQLELDLDEARGQLQRQQTLLEAKRTRSANEVQLWEKQKRYQQQAEKTKARLEETELALEKTRALLQAARTTIARLEKDKQILESKLGRNGPPSNSSGGNNLKCCRTPSCPNLQHVGVSKFAPSPSESPETYTGPSSECSSPAHHHTQIFDQSQLDLIEALKSRIELQQRKIIAMELEGRGSNALTTELEKLQERCQAIEAQNIRLEARNLQLQLDSDLLRQGDSSDRLQKRIKHLEDYIMALKEEMARNESRRELGSGLKVSTNQGQSAEQTILSLRNLVEKLRSENKFLKDGRRSTESRSSMDSTPAEAARLQQQHAEALEKISALQQELQKRTTKCSQCGGRSKDAANEELKFIKEQLVKKTQLLQKAKVLLTRAAAKEKVLREQLALWKRKCSELQNVPVIDEISE", "start_aa": "G", "up_seq": "EELEVPVEAGPENIVTEEPE", "down_seq": "", "mutagenesis": [ { "sequence_org": "GEEEKQDTEELKEVPTLHKQIKDLKDKLEYSERSLKTREEEVDILKEKLKLCQEREKSVESTVNPELDQLRIFLDEKDKHIKDLMDTLKNFHDDQQRYIKDTSNFSEDQIAKLAADLNRTEATNKIYHTQMEALRRQLANVTQREKQARDLSQSLRQQLLKRPVVSIKTELNARVKNENQLKRIQQLELDLDEARGQLQRQQTLLEAKRTRSANEVQLWEKQKRYQQQAEKTKARLEETELALEKTRALLQAARTTIARLEKDKQILESKLGRNGPPSNSSGGNNLKCCRTPSCPNLQHVGVSKFAPSPSESPETYTGPSSECSSPAHHHTQIFDQSQLDLIEALKSRIELQQRKIIAMELEGRGSNALTTELEKLQERCQAIEAQNIRLEARNLQLQLDSDLLRQGDSSDRLQKRIKHLEDYIMALKEEMARNESRRELGSGLKVSTNQGQSAEQTILSLRNLVEKLRSENKFLKDGRRSTESRSSMDSTPAEAARLQQQHAEALEKISALQQELQKRTTKCSQCGGRSKDAANEELKFIKEQLVKKTQLLQKAKVLLTRAAAKEKVLREQLALWKRKCSELQNVPVIDEISE", "sequence_mut": "", "comment": "In CEP290-N+M; no effect on cilium basal body localization. In CEP290-M; abolishes cilium basal body localization; when associated with 1-M--E-650.", "evidence": [ { "database": "UniProtKB", "id": "Q9W0M1", "url": "https://www.uniprot.org/uniprotkb/Q9W0M1" }, { "database": "PubMed", "id": "33370260", "url": "https://glygen.org/publication/PubMed/33370260" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "1385", "end_pos": "1978" }, { "start_pos": "1386", "end_pos": "1978" }, { "start_pos": "1472", "end_pos": "1978" }, { "start_pos": "157", "end_pos": "1978" }, { "start_pos": "1", "end_pos": "1384" }, { "start_pos": "1", "end_pos": "650" }, { "start_pos": "651", "end_pos": "1978" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "downstream", "id": "Q9W0M1-1.1.1384", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9W0M1-1.1386.1978", "start_pos": 1386, "end_pos": 1978, "uniprot_canonical_ac": "Q9W0M1-1", "length": 1978, "uniprot_id": "CE290_DROME", "protein_name": "Centrosomal protein Cep290", "refseq_ac": "NP_001261227", "refseq_name": "centrosomal protein 290kDa, isoform B", "gene_name": "Cep290", "gene_names_uniprotkb": "Cep290; CG13889", "gene_names_refseq": "CEP290; CG13889; Cep290; Dmel\\CG13889; Q9W0M1_DROME; cep290", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W0M1", "url": "https://www.uniprot.org/uniprotkb/Q9W0M1" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "publication": [ { "title": "CEP290 is essential for the initiation of ciliary transition zone assembly.", "journal": "PLoS biology", "date": "2020", "authors": "Wu Z, Pang N, Zhang Y, Chen H, Peng Y, Fu J, Wei Q", "evidence": [ { "database": "UniProtKB", "id": "Q9W0M1", "url": "https://www.uniprot.org/uniprotkb/Q9W0M1" } ], "reference": [ { "type": "PubMed", "id": "33370260", "url": "https://glygen.org/publication/PubMed/33370260" } ] } ], "crossref": [ { "id": "Q9W0M1", "url": "https://www.uniprot.org/uniprotkb/Q9W0M1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "33370260", "url": "https://glygen.org/publication/PubMed/33370260", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "EEEKQDTEELKEVPTLHKQIKDLKDKLEYSERSLKTREEEVDILKEKLKLCQEREKSVESTVNPELDQLRIFLDEKDKHIKDLMDTLKNFHDDQQRYIKDTSNFSEDQIAKLAADLNRTEATNKIYHTQMEALRRQLANVTQREKQARDLSQSLRQQLLKRPVVSIKTELNARVKNENQLKRIQQLELDLDEARGQLQRQQTLLEAKRTRSANEVQLWEKQKRYQQQAEKTKARLEETELALEKTRALLQAARTTIARLEKDKQILESKLGRNGPPSNSSGGNNLKCCRTPSCPNLQHVGVSKFAPSPSESPETYTGPSSECSSPAHHHTQIFDQSQLDLIEALKSRIELQQRKIIAMELEGRGSNALTTELEKLQERCQAIEAQNIRLEARNLQLQLDSDLLRQGDSSDRLQKRIKHLEDYIMALKEEMARNESRRELGSGLKVSTNQGQSAEQTILSLRNLVEKLRSENKFLKDGRRSTESRSSMDSTPAEAARLQQQHAEALEKISALQQELQKRTTKCSQCGGRSKDAANEELKFIKEQLVKKTQLLQKAKVLLTRAAAKEKVLREQLALWKRKCSELQNVPVIDEISE", "start_aa": "E", "up_seq": "ELEVPVEAGPENIVTEEPEG", "down_seq": "", "mutagenesis": [ { "sequence_org": "EEEKQDTEELKEVPTLHKQIKDLKDKLEYSERSLKTREEEVDILKEKLKLCQEREKSVESTVNPELDQLRIFLDEKDKHIKDLMDTLKNFHDDQQRYIKDTSNFSEDQIAKLAADLNRTEATNKIYHTQMEALRRQLANVTQREKQARDLSQSLRQQLLKRPVVSIKTELNARVKNENQLKRIQQLELDLDEARGQLQRQQTLLEAKRTRSANEVQLWEKQKRYQQQAEKTKARLEETELALEKTRALLQAARTTIARLEKDKQILESKLGRNGPPSNSSGGNNLKCCRTPSCPNLQHVGVSKFAPSPSESPETYTGPSSECSSPAHHHTQIFDQSQLDLIEALKSRIELQQRKIIAMELEGRGSNALTTELEKLQERCQAIEAQNIRLEARNLQLQLDSDLLRQGDSSDRLQKRIKHLEDYIMALKEEMARNESRRELGSGLKVSTNQGQSAEQTILSLRNLVEKLRSENKFLKDGRRSTESRSSMDSTPAEAARLQQQHAEALEKISALQQELQKRTTKCSQCGGRSKDAANEELKFIKEQLVKKTQLLQKAKVLLTRAAAKEKVLREQLALWKRKCSELQNVPVIDEISE", "sequence_mut": "", "comment": "In olfactory and auditory neurons, transition zones (TZ) fail to form, ciliary axonemes are lost and DZIP1 expression is significantly reduced resulting in uncoordination and severe defects in touch and hearing. No effect on connection between the basal bodies and plasma membrane. Mild defects in spermatid development and male fertility. In spermatocyte cilia there is no significant reduction in DZIP1 expression.", "evidence": [ { "database": "UniProtKB", "id": "Q9W0M1", "url": "https://www.uniprot.org/uniprotkb/Q9W0M1" }, { "database": "PubMed", "id": "33370260", "url": "https://glygen.org/publication/PubMed/33370260" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "1385", "end_pos": "1978" }, { "start_pos": "1386", "end_pos": "1978" }, { "start_pos": "1472", "end_pos": "1978" }, { "start_pos": "157", "end_pos": "1978" }, { "start_pos": "1", "end_pos": "1384" }, { "start_pos": "1", "end_pos": "650" }, { "start_pos": "651", "end_pos": "1978" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 2, "direction": "downstream", "id": "Q9W0M1-1.1.1384", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9W0M1-1.1472.1978", "start_pos": 1472, "end_pos": 1978, "uniprot_canonical_ac": "Q9W0M1-1", "length": 1978, "uniprot_id": "CE290_DROME", "protein_name": "Centrosomal protein Cep290", "refseq_ac": "NP_001261227", "refseq_name": "centrosomal protein 290kDa, isoform B", "gene_name": "Cep290", "gene_names_uniprotkb": "Cep290; CG13889", "gene_names_refseq": "CEP290; CG13889; Cep290; Dmel\\CG13889; Q9W0M1_DROME; cep290", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W0M1", "url": "https://www.uniprot.org/uniprotkb/Q9W0M1" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "publication": [ { "title": "A migrating ciliary gate compartmentalizes the site of axoneme assembly in Drosophila spermatids.", "journal": "Current biology : CB", "date": "2014", "authors": "Basiri ML, Ha A, Chadha A, Clark NM, Polyanovsky A, Cook B, Avidor-Reiss T", "evidence": [ { "database": "UniProtKB", "id": "Q9W0M1", "url": "https://www.uniprot.org/uniprotkb/Q9W0M1" } ], "reference": [ { "type": "PubMed", "id": "25447994", "url": "https://glygen.org/publication/PubMed/25447994" } ] }, { "title": "Differential regulation of transition zone and centriole proteins contributes to ciliary base diversity.", "journal": "Nature cell biology", "date": "2018", "authors": "Jana SC, Mendonca S, Machado P, Werner S, Rocha J, Pereira A, Maiato H, Bettencourt-Dias M", "evidence": [ { "database": "UniProtKB", "id": "Q9W0M1", "url": "https://www.uniprot.org/uniprotkb/Q9W0M1" } ], "reference": [ { "type": "PubMed", "id": "30013109", "url": "https://glygen.org/publication/PubMed/30013109" } ] } ], "crossref": [ { "id": "Q9W0M1", "url": "https://www.uniprot.org/uniprotkb/Q9W0M1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "25447994", "url": "https://glygen.org/publication/PubMed/25447994", "database": "PubMed", "categories": [ "Other" ] }, { "id": "30013109", "url": "https://glygen.org/publication/PubMed/30013109", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "LKNFHDDQQRYIKDTSNFSEDQIAKLAADLNRTEATNKIYHTQMEALRRQLANVTQREKQARDLSQSLRQQLLKRPVVSIKTELNARVKNENQLKRIQQLELDLDEARGQLQRQQTLLEAKRTRSANEVQLWEKQKRYQQQAEKTKARLEETELALEKTRALLQAARTTIARLEKDKQILESKLGRNGPPSNSSGGNNLKCCRTPSCPNLQHVGVSKFAPSPSESPETYTGPSSECSSPAHHHTQIFDQSQLDLIEALKSRIELQQRKIIAMELEGRGSNALTTELEKLQERCQAIEAQNIRLEARNLQLQLDSDLLRQGDSSDRLQKRIKHLEDYIMALKEEMARNESRRELGSGLKVSTNQGQSAEQTILSLRNLVEKLRSENKFLKDGRRSTESRSSMDSTPAEAARLQQQHAEALEKISALQQELQKRTTKCSQCGGRSKDAANEELKFIKEQLVKKTQLLQKAKVLLTRAAAKEKVLREQLALWKRKCSELQNVPVIDEISE", "start_aa": "L", "up_seq": "DQLRIFLDEKDKHIKDLMDT", "down_seq": "", "mutagenesis": [ { "sequence_org": "LKNFHDDQQRYIKDTSNFSEDQIAKLAADLNRTEATNKIYHTQMEALRRQLANVTQREKQARDLSQSLRQQLLKRPVVSIKTELNARVKNENQLKRIQQLELDLDEARGQLQRQQTLLEAKRTRSANEVQLWEKQKRYQQQAEKTKARLEETELALEKTRALLQAARTTIARLEKDKQILESKLGRNGPPSNSSGGNNLKCCRTPSCPNLQHVGVSKFAPSPSESPETYTGPSSECSSPAHHHTQIFDQSQLDLIEALKSRIELQQRKIIAMELEGRGSNALTTELEKLQERCQAIEAQNIRLEARNLQLQLDSDLLRQGDSSDRLQKRIKHLEDYIMALKEEMARNESRRELGSGLKVSTNQGQSAEQTILSLRNLVEKLRSENKFLKDGRRSTESRSSMDSTPAEAARLQQQHAEALEKISALQQELQKRTTKCSQCGGRSKDAANEELKFIKEQLVKKTQLLQKAKVLLTRAAAKEKVLREQLALWKRKCSELQNVPVIDEISE", "sequence_mut": "", "comment": "Results in motor defects including crossed legs and inability to stand or hold wings erect. In sensory neurons, results in failure to form a transition zone. In cilia, shows severe proprioception defects including defective mechanoreceptor current (MRC) but normal transepithelial potential (TEP). In germ cells, results in defective transition zone assembly and ciliary cap structure; the defects include increased distance between microtubules (MT) and between MT and membrane and it is associated with longer cilium basal body. This leads to ultrastructural axoneme defects without compromising the attachment of spermatocyte centrioles to the membrane.", "evidence": [ { "database": "UniProtKB", "id": "Q9W0M1", "url": "https://www.uniprot.org/uniprotkb/Q9W0M1" }, { "database": "PubMed", "id": "25447994", "url": "https://glygen.org/publication/PubMed/25447994" }, { "database": "PubMed", "id": "30013109", "url": "https://glygen.org/publication/PubMed/30013109" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "1385", "end_pos": "1978" }, { "start_pos": "1386", "end_pos": "1978" }, { "start_pos": "1472", "end_pos": "1978" }, { "start_pos": "157", "end_pos": "1978" }, { "start_pos": "1", "end_pos": "1384" }, { "start_pos": "1", "end_pos": "650" }, { "start_pos": "651", "end_pos": "1978" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 2 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9W0M1-1.157.1978", "start_pos": 157, "end_pos": 1978, "uniprot_canonical_ac": "Q9W0M1-1", "length": 1978, "uniprot_id": "CE290_DROME", "protein_name": "Centrosomal protein Cep290", "refseq_ac": "NP_001261227", "refseq_name": "centrosomal protein 290kDa, isoform B", "gene_name": "Cep290", "gene_names_uniprotkb": "Cep290; CG13889", "gene_names_refseq": "CEP290; CG13889; Cep290; Dmel\\CG13889; Q9W0M1_DROME; cep290", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W0M1", "url": "https://www.uniprot.org/uniprotkb/Q9W0M1" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "publication": [ { "title": "CEP290 is essential for the initiation of ciliary transition zone assembly.", "journal": "PLoS biology", "date": "2020", "authors": "Wu Z, Pang N, Zhang Y, Chen H, Peng Y, Fu J, Wei Q", "evidence": [ { "database": "UniProtKB", "id": "Q9W0M1", "url": "https://www.uniprot.org/uniprotkb/Q9W0M1" } ], "reference": [ { "type": "PubMed", "id": "33370260", "url": "https://glygen.org/publication/PubMed/33370260" } ] } ], "crossref": [ { "id": "Q9W0M1", "url": "https://www.uniprot.org/uniprotkb/Q9W0M1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "33370260", "url": "https://glygen.org/publication/PubMed/33370260", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "KRLLKEIETLQNQNIAQSKTIVLHERELQTIKANLVQLSQDITKVEQERKSLKQKEQQQALEITRLEGNLTFLEVEREKQEVEMRQFLDKYEAKSLGWRQALDDRDKEVERLKKQLEGKSISSGQTNSSNSQSQQEEEHAKLRQLLESREQRIEKLEEKIKSMAEEMVSSTRAMNQLCQEKERAHDPEQPRACCQMIEERLREATARCQQLSEMLEAAEQDNVLKSQQALHAISALEAYKRDEDGLIPALRRCSGLEQKVAARDKQLRAYIQELNSLHEVVQENELLRRKLHIPDDVVIMAKNVHSKQRNKDKQIERLTLKLRTSEELRLQLKLEKSELRRKLLELQQDSPQTLNESLQAPSEVGEVPHSVHLENSPRRGQGDGAASSEMQNRYDEVLAENETLRSGMYEILEKLREYDATSEHITIDSDLLRRLIEALPGGTTTPQRLQGQLLELKAREEALRQLLEQQNYSDSETGELSSVHSLCEVPEIAEEHPVEEDAVLNTATRPSSPTEATMGLRRPTVPDPEEKPTNEALAELSILRKHYDELRLHMSADGSDLMNRNQELHDQMIALELQLEQQRNSYSYMRRDYDQLLTETRKQELRFIDDKASLARQLEHSKSELCEAREELEQVNRRNLYTAEEQQKLEHRNAILSMQLGQAMEQLLGELKPTEICAEYGIIRENYQLDYITAQDFEEQQQELLTWRSKQAELQRETKQLEGLLHVANEQIHSQQRLLNEITDNHINLRHLVADLQSSSDEKLMLAKVQRDLDSVKAECSRLETEREKLQLKADCLQTQLEASELSLKQTQQDFQQERTNSDIKHKFLQHSLFMLKDKYAKFTPLVFLTNFVFAYQKFQRRLEEEQVQQRHRDHTALIDEVTAVVQAKIGLNEESSQQLVKLIKSETQTRLLEQRCEILQAKQEELVRELGELRMSQATDTEHWSTIQALFGEGEPRSQLKVDAETNTDAVAPNLAMRRAVQLIDRESSPIGSPLRKHPHLDTATQTLEAQVEFSETAVQTNGILSQQNQAVQTADAVEDNRRDSRAELQKMQETLQEANQRIEILGKQLEASRSESRESASPQGGVVEKTILSFHTLLLEKDQSIQKYQDLLQTERDQSQQALSKQVAENESLRATVNNLNFNIKTKDAEIQGLKEKLRQKPEVPVERNPSTDSRSSSSSDSSVNELTDEKIEELFESSSVERPPQEELEVPVEAGPENIVTEEPEGEEEKQDTEELKEVPTLHKQIKDLKDKLEYSERSLKTREEEVDILKEKLKLCQEREKSVESTVNPELDQLRIFLDEKDKHIKDLMDTLKNFHDDQQRYIKDTSNFSEDQIAKLAADLNRTEATNKIYHTQMEALRRQLANVTQREKQARDLSQSLRQQLLKRPVVSIKTELNARVKNENQLKRIQQLELDLDEARGQLQRQQTLLEAKRTRSANEVQLWEKQKRYQQQAEKTKARLEETELALEKTRALLQAARTTIARLEKDKQILESKLGRNGPPSNSSGGNNLKCCRTPSCPNLQHVGVSKFAPSPSESPETYTGPSSECSSPAHHHTQIFDQSQLDLIEALKSRIELQQRKIIAMELEGRGSNALTTELEKLQERCQAIEAQNIRLEARNLQLQLDSDLLRQGDSSDRLQKRIKHLEDYIMALKEEMARNESRRELGSGLKVSTNQGQSAEQTILSLRNLVEKLRSENKFLKDGRRSTESRSSMDSTPAEAARLQQQHAEALEKISALQQELQKRTTKCSQCGGRSKDAANEELKFIKEQLVKKTQLLQKAKVLLTRAAAKEKVLREQLALWKRKCSELQNVPVIDEISE", "start_aa": "K", "up_seq": "SELDKQEQLLQNIDSKNKHI", "down_seq": "", "mutagenesis": [ { "sequence_org": "KRLLKEIETLQNQNIAQSKTIVLHERELQTIKANLVQLSQDITKVEQERKSLKQKEQQQALEITRLEGNLTFLEVEREKQEVEMRQFLDKYEAKSLGWRQALDDRDKEVERLKKQLEGKSISSGQTNSSNSQSQQEEEHAKLRQLLESREQRIEKLEEKIKSMAEEMVSSTRAMNQLCQEKERAHDPEQPRACCQMIEERLREATARCQQLSEMLEAAEQDNVLKSQQALHAISALEAYKRDEDGLIPALRRCSGLEQKVAARDKQLRAYIQELNSLHEVVQENELLRRKLHIPDDVVIMAKNVHSKQRNKDKQIERLTLKLRTSEELRLQLKLEKSELRRKLLELQQDSPQTLNESLQAPSEVGEVPHSVHLENSPRRGQGDGAASSEMQNRYDEVLAENETLRSGMYEILEKLREYDATSEHITIDSDLLRRLIEALPGGTTTPQRLQGQLLELKAREEALRQLLEQQNYSDSETGELSSVHSLCEVPEIAEEHPVEEDAVLNTATRPSSPTEATMGLRRPTVPDPEEKPTNEALAELSILRKHYDELRLHMSADGSDLMNRNQELHDQMIALELQLEQQRNSYSYMRRDYDQLLTETRKQELRFIDDKASLARQLEHSKSELCEAREELEQVNRRNLYTAEEQQKLEHRNAILSMQLGQAMEQLLGELKPTEICAEYGIIRENYQLDYITAQDFEEQQQELLTWRSKQAELQRETKQLEGLLHVANEQIHSQQRLLNEITDNHINLRHLVADLQSSSDEKLMLAKVQRDLDSVKAECSRLETEREKLQLKADCLQTQLEASELSLKQTQQDFQQERTNSDIKHKFLQHSLFMLKDKYAKFTPLVFLTNFVFAYQKFQRRLEEEQVQQRHRDHTALIDEVTAVVQAKIGLNEESSQQLVKLIKSETQTRLLEQRCEILQAKQEELVRELGELRMSQATDTEHWSTIQALFGEGEPRSQLKVDAETNTDAVAPNLAMRRAVQLIDRESSPIGSPLRKHPHLDTATQTLEAQVEFSETAVQTNGILSQQNQAVQTADAVEDNRRDSRAELQKMQETLQEANQRIEILGKQLEASRSESRESASPQGGVVEKTILSFHTLLLEKDQSIQKYQDLLQTERDQSQQALSKQVAENESLRATVNNLNFNIKTKDAEIQGLKEKLRQKPEVPVERNPSTDSRSSSSSDSSVNELTDEKIEELFESSSVERPPQEELEVPVEAGPENIVTEEPEGEEEKQDTEELKEVPTLHKQIKDLKDKLEYSERSLKTREEEVDILKEKLKLCQEREKSVESTVNPELDQLRIFLDEKDKHIKDLMDTLKNFHDDQQRYIKDTSNFSEDQIAKLAADLNRTEATNKIYHTQMEALRRQLANVTQREKQARDLSQSLRQQLLKRPVVSIKTELNARVKNENQLKRIQQLELDLDEARGQLQRQQTLLEAKRTRSANEVQLWEKQKRYQQQAEKTKARLEETELALEKTRALLQAARTTIARLEKDKQILESKLGRNGPPSNSSGGNNLKCCRTPSCPNLQHVGVSKFAPSPSESPETYTGPSSECSSPAHHHTQIFDQSQLDLIEALKSRIELQQRKIIAMELEGRGSNALTTELEKLQERCQAIEAQNIRLEARNLQLQLDSDLLRQGDSSDRLQKRIKHLEDYIMALKEEMARNESRRELGSGLKVSTNQGQSAEQTILSLRNLVEKLRSENKFLKDGRRSTESRSSMDSTPAEAARLQQQHAEALEKISALQQELQKRTTKCSQCGGRSKDAANEELKFIKEQLVKKTQLLQKAKVLLTRAAAKEKVLREQLALWKRKCSELQNVPVIDEISE", "sequence_mut": "", "comment": "In CEP290-1; in olfactory and auditory neurons, transition zones (TZ) fail to form leading to the disassociation of the basal bodies from plasma membrane at later stages cliliogenesis, abnormal elongation of the axoneme and consequently complete loss of cilia. As a consequence, adults are uncoordinated and have severe defects in touch and hearing. In testes, flagellar axonemes are almost completely lost and sperm cyst elongation is severely defective. 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no effect on cilium basal body localization however expression in more restricted within the transition zone of auditory cilia. When overexpressed in CEP290-1 mutants, rescues defects in ciliogenesis, basal body docking, transition zone (TZ) assembly, and recruitment of DZP1 and Mks1 to the TZ. It does not rescue uncoordination.", "evidence": [ { "database": "UniProtKB", "id": "Q9W0M1", "url": "https://www.uniprot.org/uniprotkb/Q9W0M1" }, { "database": "PubMed", "id": "33370260", "url": "https://glygen.org/publication/PubMed/33370260" } ] } ], "all_sites": [ { "type": "mutagenesis", "site_list": [ { "start_pos": "1385", "end_pos": "1978" }, { "start_pos": "1386", "end_pos": "1978" }, { "start_pos": "1472", "end_pos": "1978" }, { "start_pos": "157", "end_pos": "1978" }, { "start_pos": "1", "end_pos": "1384" }, { "start_pos": "1", "end_pos": "650" }, { "start_pos": "651", "end_pos": "1978" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "neighbors": [ { "distance": 1, "direction": "downstream", "id": "Q9W0M1-1.1.650", "categories": [ "mutagenesis_flag" ] } ], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, 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"start_aa": "Q", "up_seq": "RARADMPCNELVVTELCVIV", "down_seq": "", "mutagenesis": [ { "sequence_org": "QSKGERAPHAFCLIYKTLNKGYVGSDVYLCYKKSMYRPKHISYKPEILLRYPTFDHTDFPLNLCPSVPLFCLPMGASLEAWPHVNGTEKRKPISPVFSTFVLTVSDGTYKVYGSALTFYEDYDESKLSAEQKELLGWDEEFGAQHSLHMIKAICLLSHHPFGDTFDKWLKYLHRMVLYDVNIPIPVERYITQLLDEVPFPAPSIHLQLSSESNDRILLTQPEDSPLPRSGAGFHILLQNLGTDNCLHVLLLALTEQKILIHSLRPATLTAVAEAIVSLLFPFKWQCPYIPLCPLGLAEVLHAPLPYLIGVDSRFFDLYEPPTDVTCIDLDTNNISLCESQRHLSPKLLPKRAARLLRQTLTELENAKPISYDSTNSLDRDIRKRKRELVLEQRIQEAFLLFMASILRGYRDFLVPISKAPSVGATDPSALFQLKAFLRSRDKSHQKFFELMMKTQMFIRFIEERSFVSDGDHGLSFFDECAEKVGNYDETPAQLHLVDWDTGQNSERTKYIFPPDSVTPAGSQPGGGGGGLAYNYENFTLQPELLQSTKKTALSKFLQLQLNASLSPGSPIARRTKHEIKLSQKMASRCQQHPEAWSKYLLATCYSLYFLILPSMVLDPRHAGKEPEILRAAYDVLVRASRLKITCDEFCYRIMMQLCGIHNLPVLAVRLHYLMKRSGVQANALTYGFYNRCVLESQWPQDSTTISQIRWNRIKNVVLGAAQFRKAGKQRAASKVNKSLSASQDQNLSTLETVDGQSRTSLASSSGDGGGHGLLDFAAFDRLRNKLGSIVRQTVTGGNNETMGDAVNNTGLLIPGELSAPNTPTYGGDTEILAKALQQQQPRKQIMSIGGGDDDDEDEDEDEYTAGSPSTPQKQLEAGADDLEYAGGGDYEADEEDEDEVDEHVAAQRARQRVQSPTKISPRTPVTQNDPLGALNEEESAASATPTQETQQEQQHSQSQIDSSIYSDKPILFRGQRSATFDESTQIGKSMHRSETMPVASSGVTNSLANIGSSLKFTFGRYSPARLSLKKDLKLPANIIENISSISPSLTGKKSNELIQGSLSSIKSAANSLTKKFDEIKGVISANSTPTKTNNGHHPHGLHHGHHHPHHHHHHHSQHGNAEQEEHDAAVHEEGKLRRVSSDLDPWGRLSESRKSSYNNLVPLGENSSTGALHMHAFPAVPDNLYSLTSENAADRDCDVLIQLTTCSQCHNCSVLVYDEEIMSGWTAEDSNLNTTCHACNKLTVPFLSVQIERQVEESEQSDPLQDGKEQIANGNSHKTSLTVPYLNPLVLRKELENILTQEGDIALIKPEFVDEHPIIYWNLLWLMERIESKTHLPELCLPVPSDKEHIDPLSKVKTVHIQCLWDNLSLHTEASGPPMYLLYRETQPTSPLIKALLTDQAQLNKNVIQQIISAIRCNDFATPLKRLANERHKLKSNGVERSHSFYRDILFLALTAIGRSNVDLATFHREYAAVFDKLTERECNMYYRNQDLPPSASTIFCRAYFRPLLLP", "sequence_mut": "", "comment": "In GG43; larvae lethal.", "evidence": [ { "database": "UniProtKB", "id": "Q9W3D3", "url": "https://www.uniprot.org/uniprotkb/Q9W3D3" }, { "database": "PubMed", "id": "18331716", "url": "https://glygen.org/publication/PubMed/18331716" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "678", "end_pos": "678" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1372", "end_pos": "1372" }, { "start_pos": "161", "end_pos": "1671" }, { "start_pos": "367", "end_pos": "1671" }, { "start_pos": "659", "end_pos": "1671" }, { "start_pos": "798", "end_pos": "1671" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9W3D3-1.367.1671", "start_pos": 367, "end_pos": 1671, "uniprot_canonical_ac": "Q9W3D3-1", "length": 1671, "uniprot_id": "CRAG_DROME", "protein_name": "DENN domain-containing protein Crag", "refseq_ac": "NP_001162710", "refseq_name": "Calmodulin-binding protein related to a Rab3 GDP/GTP exchange protein, isoform D", "gene_name": "Crag", "gene_names_uniprotkb": "Crag; CG12737", "gene_names_refseq": "CG12737; CJ; CRAG; Crag; Dmel\\CG12737; crag", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W3D3", "url": "https://www.uniprot.org/uniprotkb/Q9W3D3" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "publication": [ { "title": "Polarized deposition of basement membrane proteins depends on Phosphatidylinositol synthase and the levels of Phosphatidylinositol 4,5-bisphosphate.", "journal": "Proceedings of the National Academy of Sciences of the United States of America", "date": "2014", "authors": "Devergne O, Tsung K, Barcelo G, Schupbach T", "evidence": [ { "database": "UniProtKB", "id": "Q9W3D3", "url": "https://www.uniprot.org/uniprotkb/Q9W3D3" } ], "reference": [ { "type": "PubMed", "id": "24828534", "url": "https://glygen.org/publication/PubMed/24828534" } ] }, { "title": "Crag regulates epithelial architecture and polarized deposition of basement membrane proteins in Drosophila.", "journal": "Developmental cell", "date": "2008", "authors": "Denef N, Chen Y, Weeks SD, Barcelo G, Schupbach T", "evidence": [ { "database": "UniProtKB", "id": "Q9W3D3", "url": "https://www.uniprot.org/uniprotkb/Q9W3D3" } ], "reference": [ { "type": "PubMed", "id": "18331716", "url": "https://glygen.org/publication/PubMed/18331716" } ] }, { "title": "Stratum, a Homolog of the Human GEF Mss4, Partnered with Rab8, Controls the Basal Restriction of Basement Membrane Proteins in Epithelial Cells.", "journal": "Cell reports", "date": "2017", "authors": "Devergne O, Sun GH, Schupbach T", "evidence": [ { "database": "UniProtKB", "id": "Q9W3D3", "url": "https://www.uniprot.org/uniprotkb/Q9W3D3" } ], "reference": [ { "type": "PubMed", "id": "28228250", "url": "https://glygen.org/publication/PubMed/28228250" } ] } ], "crossref": [ { "id": "Q9W3D3", "url": "https://www.uniprot.org/uniprotkb/Q9W3D3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "24828534", "url": "https://glygen.org/publication/PubMed/24828534", "database": "PubMed", "categories": [ "Other" ] }, { "id": "18331716", "url": "https://glygen.org/publication/PubMed/18331716", "database": "PubMed", "categories": [ "Other" ] }, { "id": "28228250", "url": "https://glygen.org/publication/PubMed/28228250", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "QLSSESNDRILLTQPEDSPLPRSGAGFHILLQNLGTDNCLHVLLLALTEQKILIHSLRPATLTAVAEAIVSLLFPFKWQCPYIPLCPLGLAEVLHAPLPYLIGVDSRFFDLYEPPTDVTCIDLDTNNISLCESQRHLSPKLLPKRAARLLRQTLTELENAKPISYDSTNSLDRDIRKRKRELVLEQRIQEAFLLFMASILRGYRDFLVPISKAPSVGATDPSALFQLKAFLRSRDKSHQKFFELMMKTQMFIRFIEERSFVSDGDHGLSFFDECAEKVGNYDETPAQLHLVDWDTGQNSERTKYIFPPDSVTPAGSQPGGGGGGLAYNYENFTLQPELLQSTKKTALSKFLQLQLNASLSPGSPIARRTKHEIKLSQKMASRCQQHPEAWSKYLLATCYSLYFLILPSMVLDPRHAGKEPEILRAAYDVLVRASRLKITCDEFCYRIMMQLCGIHNLPVLAVRLHYLMKRSGVQANALTYGFYNRCVLESQWPQDSTTISQIRWNRIKNVVLGAAQFRKAGKQRAASKVNKSLSASQDQNLSTLETVDGQSRTSLASSSGDGGGHGLLDFAAFDRLRNKLGSIVRQTVTGGNNETMGDAVNNTGLLIPGELSAPNTPTYGGDTEILAKALQQQQPRKQIMSIGGGDDDDEDEDEDEYTAGSPSTPQKQLEAGADDLEYAGGGDYEADEEDEDEVDEHVAAQRARQRVQSPTKISPRTPVTQNDPLGALNEEESAASATPTQETQQEQQHSQSQIDSSIYSDKPILFRGQRSATFDESTQIGKSMHRSETMPVASSGVTNSLANIGSSLKFTFGRYSPARLSLKKDLKLPANIIENISSISPSLTGKKSNELIQGSLSSIKSAANSLTKKFDEIKGVISANSTPTKTNNGHHPHGLHHGHHHPHHHHHHHSQHGNAEQEEHDAAVHEEGKLRRVSSDLDPWGRLSESRKSSYNNLVPLGENSSTGALHMHAFPAVPDNLYSLTSENAADRDCDVLIQLTTCSQCHNCSVLVYDEEIMSGWTAEDSNLNTTCHACNKLTVPFLSVQIERQVEESEQSDPLQDGKEQIANGNSHKTSLTVPYLNPLVLRKELENILTQEGDIALIKPEFVDEHPIIYWNLLWLMERIESKTHLPELCLPVPSDKEHIDPLSKVKTVHIQCLWDNLSLHTEASGPPMYLLYRETQPTSPLIKALLTDQAQLNKNVIQQIISAIRCNDFATPLKRLANERHKLKSNGVERSHSFYRDILFLALTAIGRSNVDLATFHREYAAVFDKLTERECNMYYRNQDLPPSASTIFCRAYFRPLLLP", "start_aa": "Q", "up_seq": "ERYITQLLDEVPFPAPSIHL", "down_seq": "", "mutagenesis": [ { "sequence_org": "QLSSESNDRILLTQPEDSPLPRSGAGFHILLQNLGTDNCLHVLLLALTEQKILIHSLRPATLTAVAEAIVSLLFPFKWQCPYIPLCPLGLAEVLHAPLPYLIGVDSRFFDLYEPPTDVTCIDLDTNNISLCESQRHLSPKLLPKRAARLLRQTLTELENAKPISYDSTNSLDRDIRKRKRELVLEQRIQEAFLLFMASILRGYRDFLVPISKAPSVGATDPSALFQLKAFLRSRDKSHQKFFELMMKTQMFIRFIEERSFVSDGDHGLSFFDECAEKVGNYDETPAQLHLVDWDTGQNSERTKYIFPPDSVTPAGSQPGGGGGGLAYNYENFTLQPELLQSTKKTALSKFLQLQLNASLSPGSPIARRTKHEIKLSQKMASRCQQHPEAWSKYLLATCYSLYFLILPSMVLDPRHAGKEPEILRAAYDVLVRASRLKITCDEFCYRIMMQLCGIHNLPVLAVRLHYLMKRSGVQANALTYGFYNRCVLESQWPQDSTTISQIRWNRIKNVVLGAAQFRKAGKQRAASKVNKSLSASQDQNLSTLETVDGQSRTSLASSSGDGGGHGLLDFAAFDRLRNKLGSIVRQTVTGGNNETMGDAVNNTGLLIPGELSAPNTPTYGGDTEILAKALQQQQPRKQIMSIGGGDDDDEDEDEDEYTAGSPSTPQKQLEAGADDLEYAGGGDYEADEEDEDEVDEHVAAQRARQRVQSPTKISPRTPVTQNDPLGALNEEESAASATPTQETQQEQQHSQSQIDSSIYSDKPILFRGQRSATFDESTQIGKSMHRSETMPVASSGVTNSLANIGSSLKFTFGRYSPARLSLKKDLKLPANIIENISSISPSLTGKKSNELIQGSLSSIKSAANSLTKKFDEIKGVISANSTPTKTNNGHHPHGLHHGHHHPHHHHHHHSQHGNAEQEEHDAAVHEEGKLRRVSSDLDPWGRLSESRKSSYNNLVPLGENSSTGALHMHAFPAVPDNLYSLTSENAADRDCDVLIQLTTCSQCHNCSVLVYDEEIMSGWTAEDSNLNTTCHACNKLTVPFLSVQIERQVEESEQSDPLQDGKEQIANGNSHKTSLTVPYLNPLVLRKELENILTQEGDIALIKPEFVDEHPIIYWNLLWLMERIESKTHLPELCLPVPSDKEHIDPLSKVKTVHIQCLWDNLSLHTEASGPPMYLLYRETQPTSPLIKALLTDQAQLNKNVIQQIISAIRCNDFATPLKRLANERHKLKSNGVERSHSFYRDILFLALTAIGRSNVDLATFHREYAAVFDKLTERECNMYYRNQDLPPSASTIFCRAYFRPLLLP", "sequence_mut": "", "comment": "In CJ101; larvae lethal. In egg chambers, follicle cells (FC) display abnormal localization of various apical, junctional and basolateral proteins, and loss of epithelial integrity. In follicle epithelium (FE) cells, the basal membrane proteins, trol, Lam and vkg display abnormal localization; accumulating on the apical side of the cell in addition to the normal basal accumulation. Expression of strat in the FE is reduced. In egg chambers, trol also shows abnormal apical localization at the posterior pole. Many FCs appear irregularly shaped at the poles, form multiple layers and are often found in the germline cluster. FCs on the lateral side however, appear normal.", "evidence": [ { "database": "UniProtKB", "id": "Q9W3D3", "url": "https://www.uniprot.org/uniprotkb/Q9W3D3" }, { "database": "PubMed", "id": "24828534", "url": "https://glygen.org/publication/PubMed/24828534" }, { "database": "PubMed", "id": "18331716", "url": "https://glygen.org/publication/PubMed/18331716" }, { "database": "PubMed", "id": "28228250", "url": "https://glygen.org/publication/PubMed/28228250" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "678", "end_pos": "678" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1372", "end_pos": "1372" }, { "start_pos": "161", "end_pos": "1671" }, { "start_pos": "367", "end_pos": "1671" }, { "start_pos": "659", "end_pos": "1671" }, { "start_pos": "798", "end_pos": "1671" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9W3D3-1.659.1671", "start_pos": 659, "end_pos": 1671, "uniprot_canonical_ac": "Q9W3D3-1", "length": 1671, "uniprot_id": "CRAG_DROME", "protein_name": "DENN domain-containing protein Crag", "refseq_ac": "NP_001162710", "refseq_name": "Calmodulin-binding protein related to a Rab3 GDP/GTP exchange protein, isoform D", "gene_name": "Crag", "gene_names_uniprotkb": "Crag; CG12737", "gene_names_refseq": "CG12737; CJ; CRAG; Crag; Dmel\\CG12737; crag", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W3D3", "url": "https://www.uniprot.org/uniprotkb/Q9W3D3" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "publication": [ { "title": "Crag regulates epithelial architecture and polarized deposition of basement membrane proteins in Drosophila.", "journal": "Developmental cell", "date": "2008", "authors": "Denef N, Chen Y, Weeks SD, Barcelo G, Schupbach T", "evidence": [ { "database": "UniProtKB", "id": "Q9W3D3", "url": "https://www.uniprot.org/uniprotkb/Q9W3D3" } ], "reference": [ { "type": "PubMed", "id": "18331716", "url": "https://glygen.org/publication/PubMed/18331716" } ] } ], "crossref": [ { "id": "Q9W3D3", "url": "https://www.uniprot.org/uniprotkb/Q9W3D3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "18331716", "url": "https://glygen.org/publication/PubMed/18331716", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "WDTGQNSERTKYIFPPDSVTPAGSQPGGGGGGLAYNYENFTLQPELLQSTKKTALSKFLQLQLNASLSPGSPIARRTKHEIKLSQKMASRCQQHPEAWSKYLLATCYSLYFLILPSMVLDPRHAGKEPEILRAAYDVLVRASRLKITCDEFCYRIMMQLCGIHNLPVLAVRLHYLMKRSGVQANALTYGFYNRCVLESQWPQDSTTISQIRWNRIKNVVLGAAQFRKAGKQRAASKVNKSLSASQDQNLSTLETVDGQSRTSLASSSGDGGGHGLLDFAAFDRLRNKLGSIVRQTVTGGNNETMGDAVNNTGLLIPGELSAPNTPTYGGDTEILAKALQQQQPRKQIMSIGGGDDDDEDEDEDEYTAGSPSTPQKQLEAGADDLEYAGGGDYEADEEDEDEVDEHVAAQRARQRVQSPTKISPRTPVTQNDPLGALNEEESAASATPTQETQQEQQHSQSQIDSSIYSDKPILFRGQRSATFDESTQIGKSMHRSETMPVASSGVTNSLANIGSSLKFTFGRYSPARLSLKKDLKLPANIIENISSISPSLTGKKSNELIQGSLSSIKSAANSLTKKFDEIKGVISANSTPTKTNNGHHPHGLHHGHHHPHHHHHHHSQHGNAEQEEHDAAVHEEGKLRRVSSDLDPWGRLSESRKSSYNNLVPLGENSSTGALHMHAFPAVPDNLYSLTSENAADRDCDVLIQLTTCSQCHNCSVLVYDEEIMSGWTAEDSNLNTTCHACNKLTVPFLSVQIERQVEESEQSDPLQDGKEQIANGNSHKTSLTVPYLNPLVLRKELENILTQEGDIALIKPEFVDEHPIIYWNLLWLMERIESKTHLPELCLPVPSDKEHIDPLSKVKTVHIQCLWDNLSLHTEASGPPMYLLYRETQPTSPLIKALLTDQAQLNKNVIQQIISAIRCNDFATPLKRLANERHKLKSNGVERSHSFYRDILFLALTAIGRSNVDLATFHREYAAVFDKLTERECNMYYRNQDLPPSASTIFCRAYFRPLLLP", "start_aa": "W", "up_seq": "ECAEKVGNYDETPAQLHLVD", "down_seq": "", "mutagenesis": [ { "sequence_org": "WDTGQNSERTKYIFPPDSVTPAGSQPGGGGGGLAYNYENFTLQPELLQSTKKTALSKFLQLQLNASLSPGSPIARRTKHEIKLSQKMASRCQQHPEAWSKYLLATCYSLYFLILPSMVLDPRHAGKEPEILRAAYDVLVRASRLKITCDEFCYRIMMQLCGIHNLPVLAVRLHYLMKRSGVQANALTYGFYNRCVLESQWPQDSTTISQIRWNRIKNVVLGAAQFRKAGKQRAASKVNKSLSASQDQNLSTLETVDGQSRTSLASSSGDGGGHGLLDFAAFDRLRNKLGSIVRQTVTGGNNETMGDAVNNTGLLIPGELSAPNTPTYGGDTEILAKALQQQQPRKQIMSIGGGDDDDEDEDEDEYTAGSPSTPQKQLEAGADDLEYAGGGDYEADEEDEDEVDEHVAAQRARQRVQSPTKISPRTPVTQNDPLGALNEEESAASATPTQETQQEQQHSQSQIDSSIYSDKPILFRGQRSATFDESTQIGKSMHRSETMPVASSGVTNSLANIGSSLKFTFGRYSPARLSLKKDLKLPANIIENISSISPSLTGKKSNELIQGSLSSIKSAANSLTKKFDEIKGVISANSTPTKTNNGHHPHGLHHGHHHPHHHHHHHSQHGNAEQEEHDAAVHEEGKLRRVSSDLDPWGRLSESRKSSYNNLVPLGENSSTGALHMHAFPAVPDNLYSLTSENAADRDCDVLIQLTTCSQCHNCSVLVYDEEIMSGWTAEDSNLNTTCHACNKLTVPFLSVQIERQVEESEQSDPLQDGKEQIANGNSHKTSLTVPYLNPLVLRKELENILTQEGDIALIKPEFVDEHPIIYWNLLWLMERIESKTHLPELCLPVPSDKEHIDPLSKVKTVHIQCLWDNLSLHTEASGPPMYLLYRETQPTSPLIKALLTDQAQLNKNVIQQIISAIRCNDFATPLKRLANERHKLKSNGVERSHSFYRDILFLALTAIGRSNVDLATFHREYAAVFDKLTERECNMYYRNQDLPPSASTIFCRAYFRPLLLP", "sequence_mut": "", "comment": "In CZ085; larvae lethal.", "evidence": [ { "database": "UniProtKB", "id": "Q9W3D3", "url": "https://www.uniprot.org/uniprotkb/Q9W3D3" }, { "database": "PubMed", "id": "18331716", "url": "https://glygen.org/publication/PubMed/18331716" } ] } ], "all_sites": [ { "type": "glycosylation", "site_list": [ { "start_pos": "678", "end_pos": "678" } ] }, { "type": "mutagenesis", "site_list": [ { "start_pos": "1372", "end_pos": "1372" }, { "start_pos": "161", "end_pos": "1671" }, { "start_pos": "367", "end_pos": "1671" }, { "start_pos": "659", "end_pos": "1671" }, { "start_pos": "798", "end_pos": "1671" } ] } ], "categories": [ "mutagenesis_flag" ], "glycosylation": [], "snv": [], "phosphorylation": [], "glycation": [], "biomarkers": [], "glycosylation_flag": false, "snv_flag": false, "mutagenesis_flag": true, "phosphorylation_flag": false, "glycation_flag": false, "section_stats": [ { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 }, { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "snv_non_disease", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "publication", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "title", "journal", "date", "authors" ] } ] }, { "id": "Q9W3D3-1.798.1671", "start_pos": 798, "end_pos": 1671, "uniprot_canonical_ac": "Q9W3D3-1", "length": 1671, "uniprot_id": "CRAG_DROME", "protein_name": "DENN domain-containing protein Crag", "refseq_ac": "NP_001162710", "refseq_name": "Calmodulin-binding protein related to a Rab3 GDP/GTP exchange protein, isoform D", "gene_name": "Crag", "gene_names_uniprotkb": "Crag; CG12737", "gene_names_refseq": "CG12737; CJ; CRAG; Crag; Dmel\\CG12737; crag", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "evidence": [ { "database": "UniProtKB", "id": "Q9W3D3", "url": "https://www.uniprot.org/uniprotkb/Q9W3D3" } ], "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "publication": [ { "title": "Crag is a GEF for Rab11 required for rhodopsin trafficking and maintenance of adult photoreceptor cells.", "journal": "PLoS biology", "date": "2012", "authors": "Xiong B, Bayat V, Jaiswal M, Zhang K, Sandoval H, Charng WL, Li T, David G, Duraine L, Lin YQ, Neely GG, Yamamoto S, Bellen HJ", "evidence": [ { "database": "UniProtKB", "id": "Q9W3D3", "url": "https://www.uniprot.org/uniprotkb/Q9W3D3" } ], "reference": [ { "type": "PubMed", "id": "23226104", "url": "https://glygen.org/publication/PubMed/23226104" } ] } ], "crossref": [ { "id": "Q9W3D3", "url": "https://www.uniprot.org/uniprotkb/Q9W3D3", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "23226104", "url": "https://glygen.org/publication/PubMed/23226104", "database": "PubMed", "categories": [ "Other" ] } ], "site_seq": "RASRLKITCDEFCYRIMMQLCGIHNLPVLAVRLHYLMKRSGVQANALTYGFYNRCVLESQWPQDSTTISQIRWNRIKNVVLGAAQFRKAGKQRAASKVNKSLSASQDQNLSTLETVDGQSRTSLASSSGDGGGHGLLDFAAFDRLRNKLGSIVRQTVTGGNNETMGDAVNNTGLLIPGELSAPNTPTYGGDTEILAKALQQQQPRKQIMSIGGGDDDDEDEDEDEYTAGSPSTPQKQLEAGADDLEYAGGGDYEADEEDEDEVDEHVAAQRARQRVQSPTKISPRTPVTQNDPLGALNEEESAASATPTQETQQEQQHSQSQIDSSIYSDKPILFRGQRSATFDESTQIGKSMHRSETMPVASSGVTNSLANIGSSLKFTFGRYSPARLSLKKDLKLPANIIENISSISPSLTGKKSNELIQGSLSSIKSAANSLTKKFDEIKGVISANSTPTKTNNGHHPHGLHHGHHHPHHHHHHHSQHGNAEQEEHDAAVHEEGKLRRVSSDLDPWGRLSESRKSSYNNLVPLGENSSTGALHMHAFPAVPDNLYSLTSENAADRDCDVLIQLTTCSQCHNCSVLVYDEEIMSGWTAEDSNLNTTCHACNKLTVPFLSVQIERQVEESEQSDPLQDGKEQIANGNSHKTSLTVPYLNPLVLRKELENILTQEGDIALIKPEFVDEHPIIYWNLLWLMERIESKTHLPELCLPVPSDKEHIDPLSKVKTVHIQCLWDNLSLHTEASGPPMYLLYRETQPTSPLIKALLTDQAQLNKNVIQQIISAIRCNDFATPLKRLANERHKLKSNGVERSHSFYRDILFLALTAIGRSNVDLATFHREYAAVFDKLTERECNMYYRNQDLPPSASTIFCRAYFRPLLLP", "start_aa": "R", "up_seq": "DPRHAGKEPEILRAAYDVLV", "down_seq": "", "mutagenesis": [ { "sequence_org": "RASRLKITCDEFCYRIMMQLCGIHNLPVLAVRLHYLMKRSGVQANALTYGFYNRCVLESQWPQDSTTISQIRWNRIKNVVLGAAQFRKAGKQRAASKVNKSLSASQDQNLSTLETVDGQSRTSLASSSGDGGGHGLLDFAAFDRLRNKLGSIVRQTVTGGNNETMGDAVNNTGLLIPGELSAPNTPTYGGDTEILAKALQQQQPRKQIMSIGGGDDDDEDEDEDEYTAGSPSTPQKQLEAGADDLEYAGGGDYEADEEDEDEVDEHVAAQRARQRVQSPTKISPRTPVTQNDPLGALNEEESAASATPTQETQQEQQHSQSQIDSSIYSDKPILFRGQRSATFDESTQIGKSMHRSETMPVASSGVTNSLANIGSSLKFTFGRYSPARLSLKKDLKLPANIIENISSISPSLTGKKSNELIQGSLSSIKSAANSLTKKFDEIKGVISANSTPTKTNNGHHPHGLHHGHHHPHHHHHHHSQHGNAEQEEHDAAVHEEGKLRRVSSDLDPWGRLSESRKSSYNNLVPLGENSSTGALHMHAFPAVPDNLYSLTSENAADRDCDVLIQLTTCSQCHNCSVLVYDEEIMSGWTAEDSNLNTTCHACNKLTVPFLSVQIERQVEESEQSDPLQDGKEQIANGNSHKTSLTVPYLNPLVLRKELENILTQEGDIALIKPEFVDEHPIIYWNLLWLMERIESKTHLPELCLPVPSDKEHIDPLSKVKTVHIQCLWDNLSLHTEASGPPMYLLYRETQPTSPLIKALLTDQAQLNKNVIQQIISAIRCNDFATPLKRLANERHKLKSNGVERSHSFYRDILFLALTAIGRSNVDLATFHREYAAVFDKLTERECNMYYRNQDLPPSASTIFCRAYFRPLLLP", "sequence_mut": "", "comment": "Larvae lethal at the L2 stage. 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