ABCC6 p.Val514Ile

LOVD-ABCC6: p.Val514Ile D
Predicted by SNAP2: A: D (85%), C: D (75%), D: D (95%), E: D (91%), F: D (91%), G: D (91%), H: D (95%), I: D (53%), K: D (95%), L: D (80%), M: D (91%), N: D (91%), P: D (95%), Q: D (95%), R: D (95%), S: D (91%), T: D (91%), W: D (95%), Y: D (95%),
Predicted by PROVEAN: A: D, C: D, D: D, E: D, F: D, G: D, H: D, I: N, K: D, L: N, M: N, N: D, P: D, Q: D, R: D, S: D, T: D, W: D, Y: D,

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[hide] Miksch S, Lumsden A, Guenther UP, Foernzler D, Christen-Zach S, Daugherty C, Ramesar RK, Lebwohl M, Hohl D, Neldner KH, Lindpaintner K, Richards RI, Struk B
Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in ABCC6.
Hum Mutat. 2005 Sep;26(3):235-48., [PMID:16086317]

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