ABCB6 p.Tyr424His
| Predicted by SNAP2: | A: D (71%), C: D (66%), D: D (91%), E: D (91%), F: N (61%), G: D (85%), H: D (80%), I: D (71%), K: D (91%), L: D (75%), M: D (75%), N: D (85%), P: D (91%), Q: D (85%), R: D (91%), S: D (80%), T: D (80%), V: D (63%), W: D (80%), |
| Predicted by PROVEAN: | A: D, C: D, D: D, E: D, F: D, G: D, H: D, I: D, K: D, L: D, M: D, N: D, P: D, Q: D, R: D, S: D, T: D, V: D, W: D, |
[switch to compact view]
Comments [show]
None has been submitted yet.
[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]
Abstract [show]
Comments [show]
None has been submitted yet.
No. Sentence Comment
34 In family 2, an additional novel heterozygous missense mutation c.1270T > C (p.Y424H) in exon 6 of ABCB6 was found in proband and his affected father (Fig. 2b and c).
X
ABCB6 p.Tyr424His 25288164:34:79
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.
X
ABCB6 p.Tyr424His 25288164:37:140
status: NEW61 (c) Sequencing chromatogram showing the heterozygous missense mutation c.1270T > C (p.Y424H) in the proband.
X
ABCB6 p.Tyr424His 25288164:61:86
status: NEW