ABCA4 p.Tyr1779His

ClinVar: c.5337C>A , p.Tyr1779* ? , not provided
c.5337C>G , p.Tyr1779* ? , not provided
Predicted by SNAP2: A: D (75%), C: D (66%), D: D (80%), E: D (66%), F: N (53%), G: D (80%), H: N (53%), I: D (53%), K: D (66%), L: D (63%), M: D (59%), N: D (71%), P: D (80%), Q: D (63%), R: D (63%), S: D (75%), T: D (66%), V: D (63%), W: D (63%),
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, S: D, T: D, V: D, W: D,

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[hide] Chacon-Camacho OF, Granillo-Alvarez M, Ayala-Ramirez R, Zenteno JC
ABCA4 mutational spectrum in Mexican patients with Stargardt disease: Identification of 12 novel mutations and evidence of a founder effect for the common p.A1773V mutation.
Exp Eye Res. 2013 Apr;109:77-82. doi: 10.1016/j.exer.2013.02.006. Epub 2013 Feb 16., [PMID:23419329] [PubMed]

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