ABCA4 p.Gly1961Arg

ClinVar: c.5882G>A , p.Gly1961Glu D , Pathogenic, not provided, risk factor
Predicted by SNAP2: A: D (59%), C: D (71%), D: D (71%), E: D (95%), F: D (85%), H: D (66%), I: D (80%), K: D (66%), L: D (80%), M: D (95%), N: D (53%), P: D (71%), Q: D (63%), R: D (66%), S: N (53%), T: D (53%), V: D (75%), W: D (91%), Y: D (85%),
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]
[hide] Cideciyan AV, Swider M, Aleman TS, Tsybovsky Y, Schwartz SB, Windsor EA, Roman AJ, Sumaroka A, Steinberg JD, Jacobson SG, Stone EM, Palczewski K
ABCA4 disease progression and a proposed strategy for gene therapy.
Hum Mol Genet. 2009 Mar 1;18(5):931-41. Epub 2008 Dec 12., [PMID:19074458] [PubMed]

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