ABCD1 p.Gly266Ala

ClinVar: c.796G>A , p.Gly266Arg D , Pathogenic
Predicted by SNAP2: A: D (75%), C: D (85%), D: D (95%), E: D (95%), F: D (91%), H: D (95%), I: D (91%), K: D (95%), L: D (91%), M: D (91%), N: D (91%), P: D (91%), Q: D (91%), R: D (95%), S: D (80%), T: D (85%), V: D (91%), W: D (95%), Y: D (95%),
Predicted by PROVEAN: A: D, C: D, D: D, E: D, F: D, H: D, I: D, K: D, L: D, M: D, N: D, P: D, Q: D, R: D, S: D, T: D, V: D, W: D, Y: D,

[switch to compact view]
Comments [show]
Publications
[hide] Horn MA, Retterstol L, Abdelnoor M, Skjeldal OH, Tallaksen CM
Adrenoleukodystrophy in Norway: high rate of de novo mutations and age-dependent penetrance.
Pediatr Neurol. 2013 Mar;48(3):212-9. doi: 10.1016/j.pediatrneurol.2012.12.007., [PMID:23419472]

Abstract [show]
Comments [show]
Sentences [show]