ABCD1 p.Arg617Ser

ClinVar: c.1849C>T , p.Arg617Cys D , Pathogenic
c.1850G>A , p.Arg617His D , Pathogenic
Predicted by SNAP2: A: D (95%), C: D (95%), D: D (95%), E: D (95%), F: D (95%), G: D (95%), H: D (95%), I: D (95%), K: D (95%), L: D (95%), M: D (95%), N: D (95%), P: D (95%), Q: D (95%), S: D (95%), T: D (95%), V: D (95%), W: D (95%), Y: D (95%),
Predicted by PROVEAN: A: D, C: D, D: D, E: D, F: D, G: D, H: D, I: D, K: N, L: D, M: D, N: D, P: D, Q: D, S: D, T: D, V: D, W: D, Y: D,

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[hide] Kumar N, Taneja KK, Kumar A, Nayar D, Taneja B, Aneja S, Behari M, Kalra V, Bansal SK
Novel mutation in ATP-binding domain of ABCD1 gene in adrenoleukodystrophy.
J Genet. 2010 Dec;89(4):473-7., [PMID:21273699]

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