ABCMdb

PMID: 25288164

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., [PubMed]

Sentences

No. Mutations Sentence Comment

30 ABCB6 p.Ser322Arg A novel heterozygous missense mutation c.964A > C (p.S322R) in exon 4 of ABCB6 was identified in family 1 (Fig. 1d). Login to comment 34 ABCB6 p.Tyr424His 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). Login to comment 37 ABCB6 p.Ser322Arg ABCB6 p.Tyr424His 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. Login to comment 41 ABCB6 p.Leu811Val ABCB6 p.Ala57Thr ABCB6 p.Arg375Gln Missense mutations in ABCB6 can cause dominant familial pseudohyperkalemia (p.R375Q) [9] and ocular coloboma (p.A57T and L811V) [10]. Login to comment 48 ABCB6 p.Ser322Arg (b) Sequencing chromatogram showing the heterozygous missense mutation c.964A > C (p.S322R) in the proband. Login to comment 51 ABCB6 p.Leu356Pro ABCB6 p.Gly579Glu ABCB6 p.Ser170Gly ABCB6 p.Gln555Lys ABCB6 p.Ala453Val ABCB6 p.Ser322Lys frameshift mutations in ABCB6 have been reported to be responsible for DUH (p.S170G, p.S322K, p.L356P, p.A453V, p.Q555K, p.G579E and c.459delC) [6-8]. Login to comment 61 ABCB6 p.Tyr424His (c) Sequencing chromatogram showing the heterozygous missense mutation c.1270T > C (p.Y424H) in the proband. Login to comment