ABCA4 p.Glu2119Lys

Predicted by SNAP2: A: D (59%), C: D (59%), D: N (61%), F: D (63%), G: D (59%), H: D (59%), I: D (59%), K: D (59%), L: D (63%), M: D (63%), N: D (53%), P: D (59%), Q: D (53%), R: D (63%), S: N (53%), T: N (57%), V: D (53%), W: D (80%), Y: D (63%),
Predicted by PROVEAN: A: D, C: D, D: N, F: D, G: D, H: D, I: D, K: D, L: D, M: D, N: N, P: D, Q: N, R: D, S: D, T: D, V: D, W: D, Y: D,

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[hide] September AV, Vorster AA, Ramesar RS, Greenberg LJ
Mutation spectrum and founder chromosomes for the ABCA4 gene in South African patients with Stargardt disease.
Invest Ophthalmol Vis Sci. 2004 Jun;45(6):1705-11., [PMID:15161829]

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