ABCA4 p.Tyr1652Asp

ClinVar: c.4954T>G , p.Tyr1652Asp ? , not provided
c.4956T>G , p.Tyr1652* ? , not provided
Predicted by SNAP2: A: D (71%), C: D (63%), D: D (91%), E: D (63%), F: N (57%), G: D (75%), H: N (57%), I: N (53%), K: D (66%), L: D (59%), M: D (53%), N: D (66%), P: D (75%), Q: D (59%), R: D (63%), S: D (71%), T: D (63%), V: D (59%), W: D (53%),
Predicted by PROVEAN: A: D, C: D, D: D, E: D, F: D, G: D, H: N, 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] Webster AR, Heon E, Lotery AJ, Vandenburgh K, Casavant TL, Oh KT, Beck G, Fishman GA, Lam BL, Levin A, Heckenlively JR, Jacobson SG, Weleber RG, Sheffield VC, Stone EM
An analysis of allelic variation in the ABCA4 gene.
Invest Ophthalmol Vis Sci. 2001 May;42(6):1179-89., [PMID:11328725] [PubMed]

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[hide] Fishman GA, Stone EM, Grover S, Derlacki DJ, Haines HL, Hockey RR
Variation of clinical expression in patients with Stargardt dystrophy and sequence variations in the ABCR gene.
Arch Ophthalmol. 1999 Apr;117(4):504-10., [PMID:10206579] [PubMed]

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