PMID- 10651487
OWN - NLM
STAT- MEDLINE
DCOM- 20000124
LR  - 20131121
IS  - 1059-7794 (Print)
IS  - 1059-7794 (Linking)
VI  - 12
IP  - 3
DP  - 1998
TI  - Identification and molecular characterization of the new alpha-1-antitrypsin
      deficient allele PI Y barcelona (Asp256-->Val and Pro391-->His). Mutations in
      brief no. 174. Online.
PG  - 213
AB  - To characterize the molecular basis of the "new" alpha1-antitrypsin (alpha1AT)
      deficient variant, PI Y barcelona, DNA sequence analysis of the coding exons of
      the alpha1AT gene was carried out using an amplification DNA technique and direct
      sequencing. The PI Y barcelona allele differs from the normal M1(Val213) allele
      sequence by two point substitutions: a transversion of GAT TO GTT in exon III in 
      the codon for residue 256, resulting in the amino acid change of Asp256 to
      Val256, and a transversion of CCC to CAC in exon V in the codon for residue 391, 
      resulting in the amino acid substitution of Pro391 to His391. On isoelectric
      focusing analysis these substitutions result in a cathodal migration of the "new"
      variant close to the PI Z. The index case, diagnosed with severe obstructive
      pulmonary disease, initially phenotyped a PI ZZ, was homozygous for PI Y
      barcelona. The patient's serum alpha1AT level was 16 mg/dL (normal values 115-220
      mg/dL). Inheritance of the PI Y barcelona was confirmed by family study. Amino
      acid substitution in postion 391 occurs in the C-terminal peptide region, which
      shows a high degree of homology with the family of serpins. Pro391 is considered 
      to have special relevance in the secretion of alpha1AT.
FAU - Jardi, R
AU  - Jardi R
AD  - Department of Biochemistry, Hospital Universitario Valle Hebron. Barcelona,
      Spain. Rjardi ar.vhebron.es
FAU - Rodriguez, F
AU  - Rodriguez F
FAU - Miravitlles, M
AU  - Miravitlles M
FAU - Vidal, R
AU  - Vidal R
FAU - Cotrina, M
AU  - Cotrina M
FAU - Quer, J
AU  - Quer J
FAU - Pascual, C
AU  - Pascual C
FAU - Weidinger, S
AU  - Weidinger S
LA  - eng
PT  - Journal Article
PL  - United States
TA  - Hum Mutat
JT  - Human mutation
JID - 9215429
RN  - 30KYC7MIAI (Aspartic Acid)
RN  - 4QD397987E (Histidine)
RN  - 9DLQ4CIU6V (Proline)
RN  - HG18B9YRS7 (Valine)
SB  - IM
MH  - *Alleles
MH  - Amino Acid Substitution/*genetics
MH  - Aspartic Acid/genetics
MH  - Histidine/genetics
MH  - Humans
MH  - Phenotype
MH  - Proline/genetics
MH  - Valine/genetics
MH  - alpha 1-Antitrypsin Deficiency/*genetics
EDAT- 2000/01/29 00:00
MHDA- 2000/01/29 00:01
CRDT- 2000/01/29 00:00
PHST- 2000/01/29 00:00 [pubmed]
PHST- 2000/01/29 00:01 [medline]
PHST- 2000/01/29 00:00 [entrez]
PST - ppublish
SO  - Hum Mutat. 1998;12(3):213.