ABCA4 p.Leu686Ser

ClinVar: c.2057T>C , p.Leu686Ser ? , not provided
Predicted by SNAP2: A: D (53%), C: N (61%), D: D (71%), E: D (53%), F: N (72%), G: D (71%), H: N (57%), I: N (93%), K: N (53%), M: N (93%), N: D (59%), P: D (59%), Q: N (57%), R: D (53%), S: D (91%), T: N (61%), V: N (82%), W: D (63%), Y: N (72%),
Predicted by PROVEAN: A: D, C: D, D: D, E: D, F: N, G: D, H: D, I: N, K: D, M: N, N: D, P: D, Q: D, R: D, S: D, T: D, V: N, W: D, Y: D,

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[hide] Paloma E, Martinez-Mir A, Vilageliu L, Gonzalez-Duarte R, Balcells S
Spectrum of ABCA4 (ABCR) gene mutations in Spanish patients with autosomal recessive macular dystrophies.
Hum Mutat. 2001 Jun;17(6):504-10., [PMID:11385708]

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