ABCC7 p.Val232Gln

ClinVar: c.695T>A , p.Val232Asp ? , not provided
CF databases: c.695T>A , p.Val232Asp (CFTR1) D , This mutation was was detected by DGGE and identified by direct sequencing in the CFTR gene. The defect is a T to A change at nucleotide 827 in exon 6a which would lead to a valine-to-aspartic acid replacement in the protein sequence at residue 232. This nucleotide change has been found in an infertile man with CBAVD having neither manifestation of gastrointestinal nor pulmonary disease but with a sweat teat at mmol/
Predicted by SNAP2: A: N (53%), C: N (61%), D: D (80%), E: D (71%), F: N (61%), G: D (75%), H: D (75%), I: N (97%), K: D (80%), L: N (93%), M: N (82%), N: D (71%), P: D (75%), Q: D (71%), R: D (80%), S: D (66%), T: D (63%), W: D (85%), Y: D (80%),
Predicted by PROVEAN: A: N, C: D, D: D, E: D, F: N, G: D, H: D, I: N, K: D, L: N, M: N, N: D, P: D, Q: D, R: D, S: D, T: N, W: D, Y: N,

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[hide] Loo TW, Clarke DM
The cystic fibrosis V232D mutation inhibits CFTR maturation by disrupting a hydrophobic pocket rather than formation of aberrant interhelical hydrogen bonds.
Biochem Pharmacol. 2014 Mar 1;88(1):46-57. doi: 10.1016/j.bcp.2013.12.027. Epub 2014 Jan 9., [PMID:24412276]

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