ABCC8 p.Arg521Gln

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] Edghill EL, Flanagan SE, Ellard S
Permanent neonatal diabetes due to activating mutations in ABCC8 and KCNJ11.
Rev Endocr Metab Disord. 2010 Sep;11(3):193-8., [PMID:20922570]

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