ABCB6 p.Ser322Arg
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PMID: 25288164
[PubMed]
Lu C et al: "Novel missense mutations of ABCB6 in two chinese families with dyschromatosis universalis hereditaria."
No.
Sentence
Comment
30
A novel heterozygous missense mutation c.964A > C (p.S322R) in exon 4 of ABCB6 was identified in family 1 (Fig. 1d).
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ABCB6 p.Ser322Arg 25288164:30:53
status: NEW37 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.
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ABCB6 p.Ser322Arg 25288164:37:101
status: NEW48 (b) Sequencing chromatogram showing the heterozygous missense mutation c.964A > C (p.S322R) in the proband.
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ABCB6 p.Ser322Arg 25288164:48:85
status: NEW