ABCA4 p.Ile824Thr

ClinVar: c.2472C>T , p.Ile824= ? , not provided
Predicted by SNAP2: A: D (63%), C: N (53%), D: D (75%), E: D (59%), F: N (57%), G: D (75%), H: N (53%), K: D (53%), L: N (87%), M: N (82%), N: D (63%), P: D (66%), Q: N (53%), R: D (63%), S: D (53%), T: D (85%), V: N (87%), W: D (71%), Y: D (53%),
Predicted by PROVEAN: A: D, C: D, D: D, E: D, F: N, G: D, H: D, K: D, L: N, M: N, N: D, P: D, Q: D, R: D, S: D, T: D, V: N, W: D, Y: D,

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[hide] Jaakson K, Zernant J, Kulm M, Hutchinson A, Tonisson N, Glavac D, Ravnik-Glavac M, Hawlina M, Meltzer MR, Caruso RC, Testa F, Maugeri A, Hoyng CB, Gouras P, Simonelli F, Lewis RA, Lupski JR, Cremers FP, Allikmets R
Genotyping microarray (gene chip) for the ABCR (ABCA4) gene.
Hum Mutat. 2003 Nov;22(5):395-403., [PMID:14517951]

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[hide] Briggs CE, Rucinski D, Rosenfeld PJ, Hirose T, Berson EL, Dryja TP
Mutations in ABCR (ABCA4) in patients with Stargardt macular degeneration or cone-rod degeneration.
Invest Ophthalmol Vis Sci. 2001 Sep;42(10):2229-36., [PMID:11527935]

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