ABCC2 p.Glu28Arg

Predicted by SNAP2: A: D (63%), C: N (66%), D: D (63%), F: D (75%), G: D (71%), H: N (53%), I: D (59%), K: D (80%), L: D (59%), M: D (53%), N: D (63%), P: D (80%), Q: N (97%), R: D (75%), S: D (59%), T: D (59%), V: D (63%), W: D (80%), Y: D (75%),
Predicted by PROVEAN: A: D, C: D, D: N, F: D, G: D, H: D, I: D, K: N, L: D, M: D, N: D, P: D, Q: N, R: N, S: D, T: D, V: D, W: D, Y: D,

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[hide] Noji Y, Inazu A, Higashikata T, Nohara A, Kawashiri MA, Yu W, Todo Y, Nozue T, Uno Y, Hifumi S, Mabuchi H
Identification of two novel missense mutations (p.R1221C and p.R1357W) in the ABCC6 (MRP6) gene in a Japanese patient with pseudoxanthoma elasticum (PXE).
Intern Med. 2004 Dec;43(12):1171-6., [PMID:15645653]

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