ABCA4 p.Ala407Val

ClinVar: c.1220C>T , p.Ala407Val ? , not provided
Predicted by SNAP2: C: N (78%), D: N (57%), E: N (66%), F: N (53%), G: N (82%), H: N (78%), I: N (72%), K: N (78%), L: N (66%), M: N (72%), N: N (78%), P: N (66%), Q: N (78%), R: N (72%), S: N (87%), T: N (87%), V: N (78%), W: D (71%), Y: N (61%),
Predicted by PROVEAN: C: N, D: N, E: N, F: N, G: N, H: N, I: N, K: N, L: N, M: N, N: N, P: N, Q: N, R: N, S: N, T: N, V: N, W: N, Y: N,

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[hide] Papaioannou M, Ocaka L, Bessant D, Lois N, Bird A, Payne A, Bhattacharya S
An analysis of ABCR mutations in British patients with recessive retinal dystrophies.
Invest Ophthalmol Vis Sci. 2000 Jan;41(1):16-9., [PMID:10634594]

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