ABCMdb

PMID: 20937735

Ohashi J, Naka I, Tsuchiya N
The impact of natural selection on an ABCC11 SNP determining earwax type.
Mol Biol Evol. 2011 Jan;28(1):849-57. Epub 2010 Oct 11., [PubMed]

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No. Mutations Sentence Comment

1 ABCC11 p.Gly180Arg Associate editor: Anne Stone Abstract A nonsynonymous single nucleotide polymorphism (SNP), rs17822931-G/A (538G.A; Gly180Arg), in the ABCC11 gene determines human earwax type (i.e., wet or dry) and is one of most differentiated nonsynonymous SNPs between East Asian and African populations. Login to comment 9 ABCC11 p.Gly180Arg Introduction The type of human earwax is determined by a nonsynonymous single nucleotide polymorphism (SNP), rs17822931-G/A (538G.A; Gly180Arg), in the ABCC11 gene (MIM *607040) (Yoshiura et al. 2006). Login to comment 18 ABCC11 p.Gly180Arg Although it is difficult to statistically examine if natural selection has acted against rs17822931 rather than against rs6500380 owing to the strong LD between them (r2 5 0.91), rs6500380, which is located in intron 12 of LOMP2, seems to have less functional significance compared with rs17822931, which leads to the Gly180Arg amino acid change in ABCC11. Login to comment 185 ABCC11 p.Gly180Arg The functional significance of rs17822931-G/A (G180R) has been recently described (Toyoda et al. 2009). Login to comment