ABCB6 p.Ser322Arg
| Predicted by SNAP2: | A: N (78%), C: N (82%), D: N (57%), E: N (57%), F: N (61%), G: N (87%), H: N (61%), I: N (66%), K: N (57%), L: N (66%), M: N (82%), N: N (82%), P: N (57%), Q: N (78%), R: N (53%), T: N (93%), V: N (66%), W: D (75%), Y: N (53%), |
| Predicted by PROVEAN: | A: N, C: D, D: D, E: D, F: D, G: N, H: D, I: D, K: D, L: D, M: D, N: N, P: D, Q: D, R: D, T: N, V: D, W: D, Y: D, |
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[hide] Novel missense mutations of ABCB6 in two chinese f... J Dermatol Sci. 2014 Dec;76(3):255-8. doi: 10.1016/j.jdermsci.2014.08.015. Epub 2014 Sep 11. 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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No. Sentence Comment
30 A novel heterozygous missense mutation c.964A > C (p.S322R) in exon 4 of ABCB6 was identified in family 1 (Fig. 1d).
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ABCB6 p.Ser322Arg 25288164:30:53
status: NEW37 Additionally, the two missense mutations found in our DUH families have PolyPhen2 scores of 0.728 (p.S322R, possibly damaging) and 1.000 (p.Y424H, probably damaging), respectively.
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ABCB6 p.Ser322Arg 25288164:37:101
status: NEW48 (b) Sequencing chromatogram showing the heterozygous missense mutation c.964A > C (p.S322R) in the proband.
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ABCB6 p.Ser322Arg 25288164:48:85
status: NEW