ABCB6 p.Gln555Lys
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PMID: 24224009
[PubMed]
Cui YX et al: "Novel mutations of ABCB6 associated with autosomal dominant dyschromatosis universalis hereditaria."
No.
Sentence
Comment
12
A missense mutation (c.1663 C>A, p.Gln555Lys) in ABCB6 was identified in this family by exome and Sanger sequencing.
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ABCB6 p.Gln555Lys 24224009:12:35
status: NEW91 5496 C>A, c.1663C > A, p. Gln555Lys in exon 11 of ABCB6 (Figure 3A) was further identified in the 21 affected members, but absent in the 14 unaffected members from the family and completely cosegregated with the skin phenotype. An additional mutation in exon 1 of ABCB6 (g.776 delC, c.459 delC) was detected (Figure 3B) in an unrelated sporadic patient with typical DUH (Figure 1C), however, no mutation in ABCB6 was found in the other two patients.
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ABCB6 p.Gln555Lys 24224009:91:26
status: NEW106 Discussion In the study, we found a c. 1663 C>A, p.Gln555Lys heterozygous mutation of ABCB6 in exon 11, which perfectly cosegregated with the disorder in the family.
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ABCB6 p.Gln555Lys 24224009:106:51
status: NEW
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].
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ABCB6 p.Gln555Lys 25288164:51:114
status: NEW