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"end_pos": 22, "start_pos": 22 }, { "end_pos": 31, "start_pos": 31 }, { "end_pos": 22, "start_pos": 22 }, { "end_pos": 63, "start_pos": 63 }, { "end_pos": 36, "start_pos": 36 }, { "end_pos": 44, "start_pos": 44 }, { "end_pos": 30, "start_pos": 30 }, { "end_pos": 23, "start_pos": 23 }, { "end_pos": 23, "start_pos": 23 }, { "end_pos": 30, "start_pos": 30 }, { "end_pos": 44, "start_pos": 44 }, { "end_pos": 30, "start_pos": 30 }, { "end_pos": 56, "start_pos": 56 }, { "end_pos": 56, "start_pos": 56 }, { "end_pos": 38, "start_pos": 38 }, { "end_pos": 56, "start_pos": 56 }, { "end_pos": 29, "start_pos": 29 }, { "end_pos": 30, "start_pos": 30 }, { "end_pos": 69, "start_pos": 69 } ] }, { "type": "glycation", "site_list": [] } ], "refseq": { "url": "https://www.ncbi.nlm.nih.gov/protein/NP_001295119.1", "ac": "NP_001295119.1", "name": "glycophorin-A isoform 3", "summary": "Glycophorins A (GYPA) and B (GYPB) are major sialoglycoproteins of the human erythrocyte membrane which bear the antigenic determinants for the MN and Ss blood groups. In addition to the M or N and S or s antigens that commonly occur in all populations, about 40 related variant phenotypes have been identified. These variants include all the variants of the Miltenberger complex and several isoforms of Sta, as well as Dantu, Sat, He, Mg, and deletion variants Ena, S-s-U- and Mk. Most of the variants are the result of gene recombinations between GYPA and GYPB. [provided by RefSeq, Jul 2008]." }, "gene": [ { "url": "https://www.uniprot.org/uniprot/P02724", "name": "GYPA", "locus": { "end_pos": 144109303, "start_pos": 144140786, "chromosome": "4", "evidence": [ { "url": "https://www.ensembl.org/id/ENSG00000170180", "id": "ENSG00000170180", "database": "Ensembl Gene" } ] } } ], "gene_names": [ { "url": "https://www.uniprot.org/uniprot/P02724", "type": "recommended", "resource": "UniProtKB", "name": "GYPA" }, { "url": "https://www.uniprot.org/uniprot/P02724", "type": "synonym", "resource": "UniProtKB", "name": "GPA" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/P02724", "type": "synonym", "resource": "RefSeq", "name": "CD235a; GPA; GPErik; GPSAT; HGpMiV; HGpMiXI; HGpSta(C); MN; MNS; PAS-2" }, { "url": "https://www.ncbi.nlm.nih.gov/protein/P02724", "type": "synonym", "resource": "RefSeq", "name": "GYPA" } ], "species": [ { "evidence": [ { "url": "https://www.uniprot.org/uniprot/P02724", "id": "P02724", "database": "UniProtKB" } ], "taxid": 9606, "name": "Homo sapiens" } ], "snv": [ { "sequence_org": "S", "alt_nt": "T", "chr_id": "4", "ref_nt": "C", "chr_pos": "144120579", "evidence": [ { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770975475", "id": "rs770975475", "database": "dbSNP" }, { "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs770975475", "id": "rs770975475", "database": "ExAC" } ], "sequence_mut": "N", "keywords": [ "ebi", "germline" ], "minor_allelic_frequency": "", "annotation": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (SIS->NIS)." } ], "glycation": [ { "residue": "Lys", "type": "N-linked", "glytoucan_ac": "", "relation": "attached", "evidence": [ { "url": "https://www.uniprot.org/uniprot/P02768#ptm_processing", "id": "P02768", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/15047055", "id": "15047055", "database": "PubMed" } ] } ], "mutagenesis": [ { "sequence_org": "S", "sequence_mut": "A", "annotation": "Decreased phosphorylation by FAM20C; when associated with A-24.", "evidence": [ { "url": "https://www.uniprot.org/uniprot/P02810", "id": "P02810", "database": "UniProtKB" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/26091039", "id": "26091039", "database": "PubMed" } ] } ], "phosphorylation": [ { "residue": "Ser", "kinase_gene_name": "CDC73", "kinase_uniprot_canonical_ac": "Q6P1J9-1", "evidence": [ { "url": "http://phospho.elm.eu.org/byAccession/P02810.html", "id": "P02810", "database": "phospho.ELM" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/15693058", "id": "15693058", "database": "PubMed" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/20879038", "id": "20879038", "database": "PubMed" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/26091039", "id": "26091039", "database": "PubMed" }, { "url": "https://www.ncbi.nlm.nih.gov/pubmed/10858503", "id": "10858503", "database": "PubMed" } ] }, { "residue": "Ser", "kinase_gene_name": "", "kinase_uniprot_canonical_ac": "", "evidence": [ { "url": "https://www.uniprot.org/uniprot/P02810", "id": "P02810", "database": "UniProtKB" } ] } ] }