ABCA4 p.Leu1729Pro

ClinVar: c.5186T>C , p.Leu1729Pro ? , not provided
Predicted by SNAP2: A: D (53%), C: N (66%), D: D (71%), E: N (53%), F: N (66%), G: D (71%), H: N (53%), I: N (87%), K: D (59%), M: N (93%), N: D (53%), P: D (80%), Q: N (61%), R: D (63%), S: D (53%), T: N (66%), V: N (82%), W: D (63%), Y: N (61%),
Predicted by PROVEAN: A: N, C: N, D: D, E: D, F: N, G: D, H: D, I: N, K: D, M: N, N: D, P: D, Q: D, R: D, S: N, T: N, V: N, W: D, Y: N,

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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]

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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]

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[hide] Alapati A, Goetz K, Suk J, Navani M, Al-Tarouti A, Jayasundera T, Tumminia SJ, Lee P, Ayyagari R
Molecular diagnostic testing by eyeGENE: analysis of patients with hereditary retinal dystrophy phenotypes involving central vision loss.
Invest Ophthalmol Vis Sci. 2014 Jul 31;55(9):5510-21. doi: 10.1167/iovs.14-14359., [PMID:25082885]

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