ABCC8 p.Arg521Pro

ClinVar: c.1562G>A , p.Arg521Gln ? , Uncertain significance
Predicted by SNAP2: A: N (66%), C: N (53%), D: D (59%), E: N (57%), F: D (66%), G: D (53%), H: N (78%), I: N (57%), K: N (97%), L: N (57%), M: N (53%), N: N (72%), P: D (59%), Q: N (82%), S: N (82%), T: N (72%), V: N (57%), W: D (66%), Y: D (66%),
Predicted by PROVEAN: A: N, 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, S: N, T: N, V: N, W: D, Y: N,

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[hide] Banerjee I, Skae M, Flanagan SE, Rigby L, Patel L, Didi M, Blair J, Ehtisham S, Ellard S, Cosgrove KE, Dunne MJ, Clayton PE
The contribution of rapid KATP channel gene mutation analysis to the clinical management of children with congenital hyperinsulinism.
Eur J Endocrinol. 2011 May;164(5):733-40. Epub 2011 Mar 4., [PMID:21378087]

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