ABCB6 p.Leu356Pro

ClinVar: c.1067T>C , p.Leu356Pro D , Pathogenic
Predicted by SNAP2: A: D (71%), C: D (53%), D: D (85%), E: D (80%), F: D (66%), G: D (85%), H: D (80%), I: D (59%), K: D (85%), M: N (82%), N: D (85%), P: D (85%), Q: D (71%), R: D (80%), S: D (80%), T: D (75%), V: D (53%), W: D (80%), Y: D (80%),
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] Zhang C, Li D, Zhang J, Chen X, Huang M, Archacki S, Tian Y, Ren W, Mei A, Zhang Q, Fang M, Su Z, Yin Y, Liu D, Chen Y, Cui X, Li C, Yang H, Wang Q, Wang J, Liu M, Deng Y
Mutations in ABCB6 cause dyschromatosis universalis hereditaria.
J Invest Dermatol. 2013 Sep;133(9):2221-8. doi: 10.1038/jid.2013.145. Epub 2013 Mar 21., [PMID:23519333]

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[hide] Cui YX, Xia XY, Zhou Y, Gao L, Shang XJ, Ni T, Wang WP, Fan XB, Yin HL, Jiang SJ, Yao B, Hu YA, Wang G, Li XJ
Novel mutations of ABCB6 associated with autosomal dominant dyschromatosis universalis hereditaria.
PLoS One. 2013 Nov 5;8(11):e79808. doi: 10.1371/journal.pone.0079808. eCollection 2013., [PMID:24224009]

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[hide] Lu C, Liu J, Liu F, Liu Y, Ma D, Zhang X
Novel missense mutations of ABCB6 in two chinese families with dyschromatosis universalis hereditaria.
J Dermatol Sci. 2014 Dec;76(3):255-8. doi: 10.1016/j.jdermsci.2014.08.015. Epub 2014 Sep 11., [PMID:25288164]

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