ABCC7 p.Val562Ala

ClinVar: c.1684G>A , p.Val562Ile ? , Uncertain significance
c.1684G>C , p.Val562Leu ? , not provided
CF databases: c.1684G>A , p.Val562Ile (CFTR1) D , V562I was detected by DGGE and direct sequencing. The patient was born in Morocco and is homozygous for the mutation and reported to have severe CF with pancreatic insufficiency. The G to A change at 1816 was previously reported to the database as a polymorphism (1816G/A) by Fanen et al. in 1992
c.1684G>C , p.Val562Leu (CFTR1) ? , V562L was detected by DGGE analysis, followed by direct fluorescent sequencing. It was detected in one patient from 220 in Northern Ireland. The other CF allele is presently unknown.
Predicted by SNAP2: A: D (75%), C: D (63%), D: D (91%), E: D (91%), F: D (85%), G: D (91%), H: D (91%), I: N (57%), K: D (95%), L: N (87%), M: D (80%), N: D (91%), P: D (91%), Q: D (91%), R: D (95%), S: D (85%), T: D (85%), W: D (95%), Y: D (91%),
Predicted by PROVEAN: A: D, C: D, D: D, E: D, F: D, G: D, H: D, I: N, K: D, L: N, M: N, N: D, P: D, Q: D, R: D, S: D, T: D, W: D, Y: D,

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[hide] Keiles S, Kammesheidt A
Identification of CFTR, PRSS1, and SPINK1 mutations in 381 patients with pancreatitis.
Pancreas. 2006 Oct;33(3):221-7., [PMID:17003641]

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