ABCA4 p.Tyr340Asp

ClinVar: c.1018T>G , p.Tyr340Asp D , Pathogenic
Predicted by SNAP2: A: D (71%), C: D (63%), D: D (95%), E: D (63%), F: N (53%), G: D (80%), H: N (53%), I: N (53%), K: D (63%), L: D (59%), M: D (53%), N: D (71%), P: D (80%), Q: D (59%), R: D (63%), S: D (71%), T: D (63%), V: D (59%), W: N (53%),
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, Q: D, R: D, S: D, T: D, V: D, W: D,

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[hide] Shroyer NF, Lewis RA, Lupski JR
Complex inheritance of ABCR mutations in Stargardt disease: linkage disequilibrium, complex alleles, and pseudodominance.
Hum Genet. 2000 Feb;106(2):244-8., [PMID:10746567] [PubMed]

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[hide] Lewis RA, Shroyer NF, Singh N, Allikmets R, Hutchinson A, Li Y, Lupski JR, Leppert M, Dean M
Genotype/Phenotype analysis of a photoreceptor-specific ATP-binding cassette transporter gene, ABCR, in Stargardt disease.
Am J Hum Genet. 1999 Feb;64(2):422-34., [PMID:9973280] [PubMed]

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