ABCA4 p.Gln635Lys

ClinVar: c.1903C>A , p.Gln635Lys ? , not provided
c.1903C>T , p.Gln635* ? , not provided
Predicted by SNAP2: A: N (53%), C: N (53%), D: N (61%), E: N (78%), F: N (53%), G: N (61%), H: N (78%), I: N (61%), K: D (91%), L: N (57%), M: N (61%), N: N (78%), P: N (61%), R: N (72%), S: N (78%), T: N (78%), V: N (61%), W: D (71%), Y: N (57%),
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, R: D, S: D, T: D, V: D, W: D, Y: D,

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[hide] Scholl HP, Besch D, Vonthein R, Weber BH, Apfelstedt-Sylla E
Alterations of slow and fast rod ERG signals in patients with molecularly confirmed Stargardt disease type 1.
Invest Ophthalmol Vis Sci. 2002 Apr;43(4):1248-56., [PMID:11923272]

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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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