ABCB1 p.Gly774Ala
| Predicted by SNAP2: | A: D (59%), C: D (63%), D: D (80%), E: D (85%), F: D (80%), H: D (85%), I: D (80%), K: D (91%), L: D (85%), M: D (85%), N: N (57%), P: D (91%), Q: D (85%), R: D (91%), S: N (53%), T: D (71%), V: D (80%), W: D (91%), Y: D (85%), |
| Predicted by PROVEAN: | A: D, C: D, D: D, E: D, F: D, H: D, I: D, K: D, L: D, M: D, N: D, P: D, Q: D, R: D, S: D, T: D, V: D, W: D, Y: D, |
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[hide] Genetic polymorphism of the human organic solute c... Meta Gene. 2014 Oct 1;2:686-93. doi: 10.1016/j.mgene.2014.09.002. eCollection 2014 Dec. Toda M, Kobayashi Y, Koizumi T, Saito K, Ohbayashi M, Kohyama N, Aoki T, Murakami M, Yasuhara H, Yamamoto T
Genetic polymorphism of the human organic solute carrier protein 1 (hOSCP1) gene in Japanese patients with non-viral liver carcinoma.
Meta Gene. 2014 Oct 1;2:686-93. doi: 10.1016/j.mgene.2014.09.002. eCollection 2014 Dec., [PMID:25606452]
Abstract [show]
Human organic solute carrier protein 1 (hOSCP1) is a Na(+)-independent multispecific organic solute transporter. To date, several studies have revealed that gene mutations of the transporters are likely to be associated with some diseases; however, there are no data concerning the genetic polymorphism of the hOSCP1 gene in Japanese patients with non-viral liver carcinoma (LC). In the present study, we isolated genomic DNA from a normal portion of LC, and analyzed 41 single nucleotide polymorphisms (SNPs) chosen from a database of SNPs (dbSNPs). We found genotype frequencies for 2 non-synonymous SNPs [rs34409118 (Thr(131) --> Ala) and rs1416840 (Ile(219) --> Thr)] and 1 synonymous SNP [rs16822954 (Ser(193) --> Ser)] to be statistically significant when compared with dbSNPs. No statistical significance was observed in rs2275477 (Gly(307) --> Arg) in the hOSCP1 gene. With respect to the allele frequency, we also observed rs34409118 to be statistically significant. Interestingly, we found that non-viral LC patients do not carry heterozygous mutations in rs1416840 (A/G) and rs16822954 (A/G), suggesting that a non-carrier of heterozygous mutations in these two SNPs might be a biomarker for susceptibility for non-viral LC in Japanese. Further analyses of patients with hOSCP1 variants may elucidate the relationship between the hOSCP1 gene and susceptibility of non-viral LC in Japanese patients.
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No. Sentence Comment
79 Ichida et al. reported that the G774A mutation in human urate transporter 1 (hURAT1 [SLC22A12]) causes renal hypouricemia (Ichida et al., 2008).
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ABCB1 p.Gly774Ala 25606452:79:32
status: NEW