ABCA4 p.Ala1794Asp

ClinVar: c.5381C>A , p.Ala1794Asp ? , not provided
Predicted by SNAP2: C: N (57%), D: D (91%), E: N (53%), F: D (71%), G: N (72%), H: N (57%), I: N (53%), K: N (53%), L: D (59%), M: N (53%), N: N (66%), P: N (53%), Q: N (61%), R: N (53%), S: N (82%), T: N (78%), V: N (57%), W: D (85%), Y: D (63%),
Predicted by PROVEAN: C: N, D: D, E: D, F: D, G: N, H: D, I: N, K: D, L: N, M: N, N: D, P: N, Q: D, R: D, S: N, T: N, V: N, W: D, Y: D,

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[hide] Chen B, Tosha C, Gorin MB, Nusinowitz S
Analysis of autofluorescent retinal images and measurement of atrophic lesion growth in Stargardt disease.
Exp Eye Res. 2010 Aug;91(2):143-52. Epub 2010 Apr 14., [PMID:20398653]

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[hide] Klevering BJ, Yzer S, Rohrschneider K, Zonneveld M, Allikmets R, van den Born LI, Maugeri A, Hoyng CB, Cremers FP
Microarray-based mutation analysis of the ABCA4 (ABCR) gene in autosomal recessive cone-rod dystrophy and retinitis pigmentosa.
Eur J Hum Genet. 2004 Dec;12(12):1024-32., [PMID:15494742]

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