ABCG5 p.Arg406Gln
| Predicted by SNAP2: | A: D (75%), C: D (75%), D: D (85%), E: D (85%), F: D (85%), G: D (80%), H: N (61%), I: D (80%), K: N (53%), L: D (80%), M: D (80%), N: D (75%), P: D (91%), Q: D (66%), S: D (75%), T: D (63%), V: D (80%), W: D (91%), Y: D (80%), |
| Predicted by PROVEAN: | A: D, C: D, D: D, E: N, F: D, G: N, H: N, I: D, K: N, L: D, M: D, N: N, P: D, Q: N, S: N, T: D, V: D, W: D, Y: N, |
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[hide] Increased plasma plant sterol concentrations and a... Eur J Med Genet. 2011 Jul-Aug;54(4):e458-60. Epub 2011 May 23. Keller S, Prechtl D, Aslanidis C, Ceglarek U, Thiery J, Schmitz G, Jahreis G
Increased plasma plant sterol concentrations and a heterozygous amino acid exchange in ATP binding cassette transporter ABCG5: a case report.
Eur J Med Genet. 2011 Jul-Aug;54(4):e458-60. Epub 2011 May 23., [PMID:21664501]
Abstract [show]
Whilst conducting a scientific study, an elevated plasma plant sterol concentration of 3.07 mg/dL was established in one proband. Similar levels found in his mothers plasma (2.73 mg/dL) were suggestive of a heterozygous sitosterolemia. The resulting gene analysis for ATP binding cassette transporter G5/G8 (ABCG5/G8) revealed a heterozygous polymorphism in ABCG8 (Thr400Lys, rs4148217), which the proband had inherited from his father. However, a heterozygous amino acid exchange (Arg406Gln) in exon 9 of ABCG5 was revealed, which was inherited from his mother. Although not sufficient evidence exists to regard this sequence variation as a mutation, this previously unreleased sequence variation occurred in a "hot spot" area for sitosterolemia of the ABCG5 gene (exon 9) and the similar increased plasma plant sterol concentrations of the heterozygous mother contribute to the notion, that this very likely presents an inactivating mutation.
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No. Sentence Comment
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