ABCA4 p.Ser1071Val

ClinVar: c.3212C>T , p.Ser1071Leu ? , not provided
Predicted by SNAP2: A: N (72%), C: N (61%), D: N (57%), E: N (61%), F: D (59%), G: N (66%), H: N (66%), I: N (57%), K: N (72%), L: D (85%), M: D (53%), N: N (78%), P: N (57%), Q: N (66%), R: N (66%), T: N (87%), V: N (57%), W: D (80%), Y: N (53%),
Predicted by PROVEAN: A: D, C: D, D: D, E: D, F: D, G: D, H: D, I: D, K: D, L: D, M: D, N: D, P: D, Q: D, R: D, T: D, V: D, W: D, Y: D,

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[hide] Molday RS, Zhong M, Quazi F
The role of the photoreceptor ABC transporter ABCA4 in lipid transport and Stargardt macular degeneration.
Biochim Biophys Acta. 2009 Jul;1791(7):573-83. Epub 2009 Feb 20., [PMID:19230850]

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