ABCMdb

PMID: 15357566

Ngukam A, Jacquemont ML, Souville I, Viel M, Beldjord C, Hubert D, Hughes JN, Bienvenu T
A novel missense mutation A1081P in the cystic fibrosis transmembrane conductance regulator (CFTR) gene identified in a Laotian patient with congenital bilateral absence of the vas deferens.
J Trop Pediatr. 2004 Aug;50(4):239-40., [PubMed]

Sentences

No. Mutations Sentence Comment

4 ABCC7 p.Gly970Asp ABCC7 p.His1085Arg ABCC7 p.Leu88* ABCC7 p.Met152Arg ABCC7 p.Leu568* ABCC7 p.Lys166Glu Only a few CFTR mutations have been identified in that population (L88X, M152R, K166E, F508del, 1742delAC, 1525-18G>A, 1540del10, L568X, 1898ϩ1G>T, 1898ϩ5G>T, G970D, 451-458del8, 3121-2A>G, H1085R).1-6 We report here a novel missense mutation in a Laotian patient with congenital bilateral absence of the vas deferens (CBAVD). Login to comment 18 ABCC7 p.Ala1081Pro 4  Oxford University Press 2004; all rights reserved 239 Case Reports A Novel Missense Mutation A1081P in the Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Gene Identified in a Laotian Patient with Congenital Bilateral Absence of the Vas Deferens by Angele Ngukam,a Marie Line Jacquemont,a Isabelle Souville,a Marion Viel,a Cherif Beldjord,a Dominique Hubert,b Jean-Noël Hughesc and Thierry Bienvenua a Laboratoire de Biochimie et Génétique Moléculaires, Hôpital Cochin Paris, France b Service de Pneumologie, Hôpital Cochin, Paris, France c Service de Médecine de la Reproduction, CHU Jean Verdier, Bondy Cedex, France Summary Cystic fibrosis is the most common autosomal disorder in the Caucasion population. Login to comment 30 ABCC7 p.Ala1081Pro ABCC7 p.Ala1081Pro This nucleotide change leads to substitution of alanine to proline at position 1081 (A1081P) of the CFTR polypeptide. Login to comment 32 ABCC7 p.Ala1081Pro A1081P occurs in part of exon 17b, residues 1037-1095, that forms the fourth intracellular loop of CFTR. Login to comment