ABCG5 p.Arg406Gln
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PMID: 21664501
[PubMed]
Keller S et al: "Increased plasma plant sterol concentrations and a heterozygous amino acid exchange in ATP binding cassette transporter ABCG5: a case report."
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4
However, a heterozygous amino acid exchange (Arg406Gln) in exon 9 of ABCG5 was revealed, which was inherited from his mother.
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ABCG5 p.Arg406Gln 21664501:4:45
status: NEW55 In the ABCG5 gene, a heterozygote nucleotide change (c.1217G > A) determined in the samples of the proband and his mother resulted in an amino acid exchange (Arg406Gln, CGG406CAG) in exon 9.
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ABCG5 p.Arg406Gln 21664501:55:158
status: NEW58 Five of the 13 mutations are located in exon 9 of the ABCG5 gene (Arg389His, Arg408Term, Arg419His, Arg419Pro, Asn437Lys) corresponding to our findings regarding the amino acid exchange Arg406Gln.
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ABCG5 p.Arg406Gln 21664501:58:186
status: NEW61 Conclusion We present a case report demonstrating a male proband with an increased plasma plant sterol concentration (3.07 mg/dL) and a heterozygous amino acid exchange (Arg406Gln) in the exon 9 of the ABCG5 gene.
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ABCG5 p.Arg406Gln 21664501:61:170
status: NEW