ABCA4 p.Lys1978Met

Predicted by SNAP2: A: D (71%), C: D (71%), D: D (75%), E: D (71%), F: D (75%), G: D (75%), H: D (66%), I: D (66%), L: D (71%), M: D (95%), N: D (63%), P: D (75%), Q: D (63%), R: N (53%), S: D (66%), T: D (63%), V: D (71%), W: D (85%), Y: D (71%),
Predicted by PROVEAN: A: D, C: D, D: D, E: D, F: D, G: D, H: D, I: D, L: D, M: D, N: D, P: D, Q: D, R: D, S: D, T: D, V: D, W: D, Y: D,

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[hide] Quazi F, Lenevich S, Molday RS
ABCA4 is an N-retinylidene-phosphatidylethanolamine and phosphatidylethanolamine importer.
Nat Commun. 2012 Jun 26;3:925. doi: 10.1038/ncomms1927., [PMID:22735453]

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[hide] Molday RS, Zhang K
Defective lipid transport and biosynthesis in recessive and dominant Stargardt macular degeneration.
Prog Lipid Res. 2010 Oct;49(4):476-92. Epub 2010 Jul 13., [PMID:20633576]

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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] Ahn J, Beharry S, Molday LL, Molday RS
Functional interaction between the two halves of the photoreceptor-specific ATP binding cassette protein ABCR (ABCA4). Evidence for a non-exchangeable ADP in the first nucleotide binding domain.
J Biol Chem. 2003 Oct 10;278(41):39600-8. Epub 2003 Jul 29., [PMID:12888572]

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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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[hide] Tsybovsky Y, Palczewski K
Expression, purification and structural properties of ABC transporter ABCA4 and its individual domains.
Protein Expr Purif. 2014 May;97:50-60. doi: 10.1016/j.pep.2014.02.010. Epub 2014 Feb 28., [PMID:24583180]

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