ABCC8 p.Phe565Ser

Predicted by SNAP2: A: N (66%), C: N (78%), D: N (53%), E: N (57%), G: N (72%), H: N (72%), I: N (93%), K: N (61%), L: N (93%), M: N (87%), N: N (66%), P: N (57%), Q: N (82%), R: N (78%), S: N (78%), T: N (78%), V: N (93%), W: N (61%), Y: N (93%),
Predicted by PROVEAN: A: N, C: D, D: D, E: D, G: D, H: N, I: N, K: D, L: N, M: N, N: D, P: D, Q: D, R: D, S: D, T: N, V: N, W: N, Y: N,

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[hide] Rozet JM, Perrault I, Gerber S, Hanein S, Barbet F, Ducroq D, Souied E, Munnich A, Kaplan J
Complete abolition of the retinal-specific guanylyl cyclase (retGC-1) catalytic ability consistently leads to leber congenital amaurosis (LCA).
Invest Ophthalmol Vis Sci. 2001 May;42(6):1190-2., [PMID:11328726]

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