ABCC7 p.Ile530Leu

ClinVar: c.1588A>C , p.Ile530Leu ? , not provided
Predicted by SNAP2: A: D (66%), C: N (53%), D: D (85%), E: D (80%), F: N (78%), G: D (85%), H: D (80%), K: D (85%), L: N (93%), M: N (82%), N: D (80%), P: D (85%), Q: D (75%), R: D (85%), S: D (75%), T: D (75%), V: N (61%), W: D (80%), Y: D (71%),
Predicted by PROVEAN: A: D, C: D, D: D, E: D, F: N, G: D, H: D, K: D, L: N, M: N, N: D, P: D, Q: D, R: D, S: D, T: D, V: N, W: D, Y: N,

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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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