ABCC7 p.Ala1081Pro
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PMID: 15357566
[PubMed]
Ngukam A et al: "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."
No.
Sentence
Comment
18
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.
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ABCC7 p.Ala1081Pro 15357566:18:104
status: NEW30 This nucleotide change leads to substitution of alanine to proline at position 1081 (A1081P) of the CFTR polypeptide.
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ABCC7 p.Ala1081Pro 15357566:30:48
status: NEWX
ABCC7 p.Ala1081Pro 15357566:30:85
status: NEW32 A1081P occurs in part of exon 17b, residues 1037-1095, that forms the fourth intracellular loop of CFTR.
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ABCC7 p.Ala1081Pro 15357566:32:0
status: NEW
PMID: 16435054
[PubMed]
Zilfalil BA et al: "Detection of F508del mutation in cystic fibrosis transmembrane conductance regulator gene mutation among Malays."
No.
Sentence
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76
The novel mutations found in Asian populations include a missense mutation A1081P in CFTR gene reported on a Loatian patient with CBAVD(6) , two novel mutations, E7X and 989-992insA, in a Taiwanese cystic fibrosis patient(7) and three Asian mutations, K166E, L568X and 3121-2A‡G (in homozygosity), reported by Macek et al(8) .
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ABCC7 p.Ala1081Pro 16435054:76:75
status: NEW