ABCA4 p.Phe1440Val

ClinVar: c.4319T>C , p.Phe1440Ser ? , not provided
c.4318T>G , p.Phe1440Val ? , not provided
Predicted by SNAP2: A: D (71%), C: N (53%), D: D (80%), E: D (66%), G: D (80%), H: D (53%), I: N (61%), K: D (63%), L: N (57%), M: N (66%), N: D (71%), P: D (75%), Q: D (53%), R: D (59%), S: D (85%), T: D (59%), V: D (66%), W: N (53%), Y: N (72%),
Predicted by PROVEAN: A: D, C: D, D: D, E: D, G: D, H: D, I: N, K: D, L: N, M: N, N: D, P: D, Q: D, R: D, S: D, T: D, V: N, W: D, Y: N,

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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] 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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