ABCG2 p.Gly354Arg
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PMID: 16702730
[PubMed]
Maekawa K et al: "Genetic variation and haplotype structure of the ABC transporter gene ABCG2 in a Japanese population."
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Sentence
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10
In addition to 9 previously reported nonsynonymous single nucleotide polymorphisms (SNPs), 2 novel nonsynonymous SNPs, 38CÀT (Ser13Leu) and 1060GÀA (Gly354Arg), were found with minor allele frequencies of 0.3z.
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ABCG2 p.Gly354Arg 16702730:10:159
status: VERIFIED73 Two novel nonsynonymous SNPs, 38CÀT (Ser13Leu) and 1060GÀA (Gly354Arg), were heterozygous in dierent patients at an allele frequency of 0.003.
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ABCG2 p.Gly354Arg 16702730:73:70
status: VERIFIED130 In Block 1, seven haplotype groups (*1 to *7) were inferred, and the groups of *2 to *7 harbored non-synonymous SNPs, 421CÀA (Gln141Lys) (*2), 34GÀA (Val12Met) (*3), 376CÀT (Gln126X) (*4), 38CÀT (Ser13Leu) (*5), 479GÀA (Arg160Gln) (*6), and 1060GÀA (Gly354Arg) (*7).
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ABCG2 p.Gly354Arg 16702730:130:279
status: NEW152 Eleven nonsynonymous variations, including two novel ones (Ser13Leu and Gly354Arg), were found.
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ABCG2 p.Gly354Arg 16702730:152:72
status: VERIFIED158 The functional eects of the other ve nonsynonymous SNPs (Ser13Leu, Arg160Gln, Gly354Arg, Phe431Leu, and Phe489Leu) have not yet been characterized.
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ABCG2 p.Gly354Arg 16702730:158:90
status: VERIFIED159 Using the PolyPhen program (http:WW www.bork.embl-heidelberg.deWPolyPhenW) to predict the functional eect of these amino acid substitutions, three substitutions, Ser13Leu, Arg160Gln, and Gly354Arg, were estimated to cause possible alterations in protein function based on the PSIC (position specic independent count) prole score.
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ABCG2 p.Gly354Arg 16702730:159:193
status: VERIFIED