ABCC7 p.Gln493Leu

ClinVar: c.1478A>C , p.Gln493Pro ? , not provided
c.1478A>G , p.Gln493Arg ? , not provided
c.1477C>T , p.Gln493* D , Pathogenic
CF databases: c.1477C>T , p.Gln493* D , CF-causing
c.1478A>C , p.Gln493Pro (CFTR1) D ,
c.1478A>G , p.Gln493Arg (CFTR1) ? , This mutation was identified by DGGE and direct sequencing which was found in a Bulgarian CF chromosome.
Predicted by SNAP2: A: D (85%), C: D (85%), D: D (91%), E: D (85%), F: D (91%), G: D (91%), H: D (85%), I: D (91%), K: D (91%), L: D (91%), M: D (85%), N: D (85%), P: D (95%), R: D (91%), S: D (85%), T: D (85%), V: D (85%), W: D (91%), Y: D (91%),
Predicted by PROVEAN: A: D, C: D, D: D, E: D, F: D, G: D, H: D, I: D, K: D, L: D, M: D, N: D, P: D, R: D, S: D, T: D, V: D, W: D, Y: D,

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[hide] Sharma N, Singh M, Kaur G, Thapa BR, Prasad R
Identification and characterization of CFTR gene mutations in Indian CF patients.
Ann Hum Genet. 2009 Jan;73(1):26-33. Epub 2008 Sep 8., [PMID:18782298]

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[hide] Prasad R, Sharma H, Kaur G
Molecular basis of cystic fibrosis disease: an Indian perspective.
Indian J Clin Biochem. 2010 Oct;25(4):335-41. Epub 2010 Nov 19., [PMID:21966101]

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