ABCC7 p.Ala1081Pro
| ClinVar: |
c.3241G>C
,
p.Ala1081Pro
?
, not provided
|
| CF databases: |
c.3241G>C
,
p.Ala1081Pro
(CFTR1)
D
, This sequence variation was detected by DGGE and identified by direct sequencing. This missense mutation A1081P (G->C at position 3373) was not found in 100 other non-[delta]F508 CF chromosomes and 500 non-CF chromosomes tested. It was observed in a male laotian subject with congenital bilateral absence of the vas deferens. The chloride sweat test was normal (18 nM). The other mutation is the 5T variant.
|
| Predicted by SNAP2: | C: N (97%), D: N (78%), E: N (82%), F: N (97%), G: N (93%), H: N (93%), I: N (97%), K: N (87%), L: N (97%), M: N (97%), N: N (93%), P: N (78%), Q: N (93%), R: N (87%), S: N (93%), T: N (93%), V: N (97%), W: N (78%), Y: N (97%), |
| Predicted by PROVEAN: | C: N, D: N, E: N, F: N, G: N, H: N, I: N, K: N, L: N, M: N, N: N, P: N, Q: N, R: N, S: N, T: N, V: N, W: N, Y: N, |
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[hide] A novel missense mutation A1081P in the cystic fib... J Trop Pediatr. 2004 Aug;50(4):239-40. 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., [PMID:15357566]
Abstract [show]
Cystic fibrosis is the most common autosomal disorder in the Caucasion population. However, the disease is rare in Asia and little is known about the spectrum of CF transmembrane conductance regulator, CFTR, mutations in this population. We studied a 39-year-old Loatian patient with congenital bilateral absence of the vas deferens and identified a novel missense mutation in exon 17b (3373G>C). Identification of novel mutations in this Asian population is of particular interest when designing a genetic testing strategy in Asian countries and also in other countries where immigration from Asia is common.
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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.
X
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[hide] Detection of F508del mutation in cystic fibrosis t... Singapore Med J. 2006 Feb;47(2):129-33. Zilfalil BA, Sarina S, Liza-Sharmini AT, Oldfield NJ, Stenhouse SA
Detection of F508del mutation in cystic fibrosis transmembrane conductance regulator gene mutation among Malays.
Singapore Med J. 2006 Feb;47(2):129-33., [PMID:16435054]
Abstract [show]
INTRODUCTION: Cystic fibrosis (CF) is one of the common genetic disorders in the western world. It has been reported to be very rare in Asian populations. According to the Cystic Fibrosis Genetic Analysis Consortium, more than 1,000 mutations of the CF gene have been identified. The CF gene, named the cystic fibrosis transmembrane conductance regulator (CFTR), is located on chromosome 7 and composed of 27 exons. This study aims to detect possible CFTR gene mutations in Malays. METHODS: We analysed 50 blood samples from healthy Malays with no symptoms of CF. DNA was extracted from blood using commercially available extraction kits (Eppendorf, Germany). Identification of CFTR gene mutation was performed using the CF OLA (Oligonucleotide Ligation Assay) kit (Applied Biosystems, USA). The PCR-ligation products were electrophoresed on eight percent sequagel using an ABI PRISM 377 genetic analyser (Applied Biosystems, USA). Electrophoresis data was analysed using the Genotyper software and a report of the CF genotype for all loci tested was created using the CF Genotyper Template software. Out of 50, one sample (two percent) was detected to have the F508del mutation (3bp deletion at exon 10), which is one of the most common CFTR gene mutations in Caucasians. RESULTS: The F508del mutation allele was detected in one subject. This indicates that she was a CF carrier. CONCLUSION: We report the finding of a carrier of the F508del mutation of the CFTR gene in the Malay population. Our finding revealed that CF could also affect the Malay population. Larger studies are necessary to determine the exact gene frequency of this population.
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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