ABCA4 p.Leu1971Arg

ClinVar: c.5912T>G , p.Leu1971Arg D , Pathogenic
Predicted by SNAP2: A: D (63%), C: N (57%), D: D (75%), E: D (59%), F: N (57%), G: D (75%), H: D (53%), I: N (82%), K: D (63%), M: N (87%), N: D (66%), P: D (66%), Q: N (53%), R: D (95%), S: D (63%), T: N (57%), V: N (78%), W: D (71%), Y: N (53%),
Predicted by PROVEAN: A: D, C: D, D: D, E: D, F: D, G: D, H: D, I: N, K: D, M: N, N: D, P: D, Q: D, R: D, S: D, T: D, V: D, W: D, Y: D,

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[hide] Rozet JM, Gerber S, Souied E, Perrault I, Chatelin S, Ghazi I, Leowski C, Dufier JL, Munnich A, Kaplan J
Spectrum of ABCR gene mutations in autosomal recessive macular dystrophies.
Eur J Hum Genet. 1998 May-Jun;6(3):291-5., [PMID:9781034]

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[hide] Molday RS, Zhong M, Quazi F
The role of the photoreceptor ABC transporter ABCA4 in lipid transport and Stargardt macular degeneration.
Biochim Biophys Acta. 2009 Jul;1791(7):573-83. Epub 2009 Feb 20., [PMID:19230850]

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[hide] Biswas-Fiss EE
Functional analysis of genetic mutations in nucleotide binding domain 2 of the human retina specific ABC transporter.
Biochemistry. 2003 Sep 16;42(36):10683-96., [PMID:12962493]

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[hide] Sun H, Nathans J
Mechanistic studies of ABCR, the ABC transporter in photoreceptor outer segments responsible for autosomal recessive Stargardt disease.
J Bioenerg Biomembr. 2001 Dec;33(6):523-30., [PMID:11804194]

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