ABCA4 p.Ala60Thr

ClinVar: c.178G>A , p.Ala60Thr ? , not provided
c.179C>T , p.Ala60Val ? , not provided
Predicted by SNAP2: C: N (78%), D: N (61%), E: D (85%), F: N (57%), G: N (87%), H: N (78%), I: N (72%), K: N (78%), L: N (66%), M: N (72%), N: N (82%), P: N (72%), Q: N (78%), R: N (72%), S: N (93%), T: D (71%), V: D (80%), W: D (71%), Y: N (61%),
Predicted by PROVEAN: C: D, D: D, E: D, F: D, G: D, H: D, I: D, K: D, L: D, M: D, N: D, P: N, Q: D, R: D, S: N, T: D, V: D, W: D, Y: D,

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[hide] Scholl HP, Kremers J, Vonthein R, White K, Weber BH
L- and M-cone-driven electroretinograms in Stargardt's macular dystrophy-fundus flavimaculatus.
Invest Ophthalmol Vis Sci. 2001 May;42(6):1380-9., [PMID:11328755]

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[hide] Rivera A, White K, Stohr H, Steiner K, Hemmrich N, Grimm T, Jurklies B, Lorenz B, Scholl HP, Apfelstedt-Sylla E, Weber BH
A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration.
Am J Hum Genet. 2000 Oct;67(4):800-13. Epub 2000 Aug 24., [PMID:10958763]

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