ABCB6 p.Leu356Pro
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PMID: 23519333
[PubMed]
Zhang C et al: "Mutations in ABCB6 cause dyschromatosis universalis hereditaria."
No.
Sentence
Comment
3
After excluding the two known DUH loci, we performed genome-wide linkage analysis and identified a DUH locus on chromosome 2q33.3-q36.1 with a maximum LOD score of 3.49 with marker D2S2382. Exome sequencing identified a c.1067T4C (p.Leu356Pro) mutation in exon 3 of ABCB6 (ATP-binding cassette subfamily B, member 6) in the DUH family.
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ABCB6 p.Leu356Pro 23519333:3:233
status: NEW55 Mutation of the ABCB6 gene in DUH patients The c.1067T4C mutation in ABCB6 leads to a proline to leucine substitution at codon 356 (p.Leu356Pro) in the ABCB6 protein.
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ABCB6 p.Leu356Pro 23519333:55:134
status: NEW82 The wild-type ABCB6 and three mutant forms of ABCB6 (p.Ser170Gly, p.Leu356Pro, and p.Gly579Glu) were tagged with enhanced green fluorescent protein (EGFP) fusion proteins and then transfected into mouse B16 cells, respectively. The localization of the various fusion proteins was determined by confocal microscopy.
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ABCB6 p.Leu356Pro 23519333:82:68
status: NEW116 (a) The mutations in ABCB6 and their Sanger sequencing tracing, including c.1067T4C (p.Leu356Pro) (reverse complement), c.508A4G (p.Ser170Gly), and c.1736G4A (p.Gly579Glu).
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ABCB6 p.Leu356Pro 23519333:116:87
status: NEW138 Genotypes were analyzed by the Gene ABCB6 GaIT DAPI Merge WT Ser170Gly Leu356Pro Gly579Glu Figure 3.
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ABCB6 p.Leu356Pro 23519333:138:71
status: NEW171 Next, we performed site-directed mutagenesis to generate the three ABCB6 mutations associated with DUH (p.Ser170Gly, p.Leu356Pro, and p.Gly579Glu).
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ABCB6 p.Leu356Pro 23519333:171:119
status: NEW
PMID: 24224009
[PubMed]
Cui YX et al: "Novel mutations of ABCB6 associated with autosomal dominant dyschromatosis universalis hereditaria."
No.
Sentence
Comment
135
Mutations of p.S170G, p.L356P, p.G579E in ABCB6 resulted in DUH [12].
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ABCB6 p.Leu356Pro 24224009:135:24
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.Leu356Pro 25288164:51:96
status: NEW