ABCG2 p.Lys473Glu

Predicted by SNAP2: A: D (75%), C: D (71%), D: D (85%), E: D (85%), F: D (85%), G: D (75%), H: D (71%), I: D (80%), L: D (75%), M: D (66%), N: D (66%), P: D (91%), Q: D (66%), R: D (66%), S: D (71%), T: D (71%), V: D (80%), W: D (85%), Y: D (80%),
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] Woodward OM, Tukaye DN, Cui J, Greenwell P, Constantoulakis LM, Parker BS, Rao A, Kottgen M, Maloney PC, Guggino WB
Gout-causing Q141K mutation in ABCG2 leads to instability of the nucleotide-binding domain and can be corrected with small molecules.
Proc Natl Acad Sci U S A. 2013 Mar 26;110(13):5223-8. doi: 10.1073/pnas.1214530110. Epub 2013 Mar 14., [PMID:23493553]

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