ABCMdb

ABCB6 p.Ala453Val

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Publications

PMID: 24498303 [PubMed] Liu H et al: "Genome-wide linkage, exome sequencing and functional analyses identify ABCB6 as the pathogenic gene of dyschromatosis universalis hereditaria."

No. Sentence Comment

4 Results: Genome-wide linkage (assuming autosomal dominant inheritance mode) and exome sequencing analyses identified ABCB6 as the disease candidate gene by discovering a coding mutation (c.1358C.T; p.Ala453Val) that co-segregates with the disease phenotype. Login to comment
5 Further mutation analysis of ABCB6 in four other DUH families and two sporadic cases by Sanger sequencing confirmed the mutation (c.1358C.T; p.Ala453Val) and discovered a second, co-segregating coding mutation (c.964A.C; p.Ser322Lys) in one of the four families. Login to comment
40 This coding mutation (c.1358C.T; p.Ala453Val) is in the exon 7 of ABCB6, and was predicted to be damaging by SIFT and probably damaging by PolyphenII. Login to comment
42 Sanger Sequencing to Verify the Candidate Gene ABCB6 To verify the mutation (c.1358C.T; p.Ala453Val), 13 individuals of the Family 1 (Figure 1A) were Sanger sequenced for all the exons of ABCB6. Login to comment
100 A: Two mutations in ABCB6 and their sequencing traces, including c.1358C.T; p.Ala453Val in the Family 1 and c.964A.C; p.Ser322Lys in the Family 2; Arrows indicate the location of the two mutations. Login to comment
103 C: ABCB6 exon structure, where c.964A.C; p.S322L and c.1358C.T; p.A453V are DUH mutations identified in this paper, c.169G.A; p.A57T and c.2431C.G; p.L811V are coloboma mutations7 . Login to comment

PMID: 25288164 [PubMed] Lu C et al: "Novel missense mutations of ABCB6 in two chinese families with dyschromatosis universalis hereditaria."

No. Sentence Comment

51 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