ABCB6 p.Gly579Glu
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PMID: 23519333
[PubMed]
Zhang C et al: "Mutations in ABCB6 cause dyschromatosis universalis hereditaria."
No.
Sentence
Comment
4
Two additional missense mutations, c.508A4G (p.Ser170Gly) in exon 1 and c.1736G4A (p.Gly579Glu) in exon 12 of ABCB6, were found in two out of six patients by mutational screening using sporadic DUH patients.
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ABCB6 p.Gly579Glu 23519333:4:85
status: NEW58 Two additional missense mutations, c.508A4G (p.Ser170Gly) in exon 1 and c.1736G4A (p.Gly579Glu) in exon 12 (Figure 2a) of ABCB6, were identified in two of these six cases.
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ABCB6 p.Gly579Glu 23519333:58:85
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.Gly579Glu 23519333:82:85
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.Gly579Glu 23519333:116:161
status: NEW138 Genotypes were analyzed by the Gene ABCB6 GaIT DAPI Merge WT Ser170Gly Leu356Pro Gly579Glu Figure 3.
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ABCB6 p.Gly579Glu 23519333:138:81
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.Gly579Glu 23519333:171:136
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.Gly579Glu 24224009:135:33
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.Gly579Glu 25288164:51:123
status: NEW