PMID: 11294565

Tang J, Freedman DO, Allen S, Karita E, Musonda R, Braga C, Jamieson BD, Louie L, Kaslow RA
Genotyping TAP2 variants in North American Caucasians, Brazilians, and Africans.
Genes Immun. 2001 Feb;2(1):32-40., [PubMed]
Sentences
No. Mutations Sentence Comment
38 ABCB2 p.Ile379Val
X
ABCB2 p.Ile379Val 11294565:38:55
status: NEW
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 In particular, complete equilibrium between GGT386GGG, I379V, A665T, and Q687Stop further separated a number of protein-coding alleles into pairs of nucleotide sequences. Login to comment 79 ABCB2 p.Ile379Val
X
ABCB2 p.Ile379Val 11294565:79:209
status: NEW
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 The complexity of TAP2 polymorphisms, as implied in our identification Table 2 Frequency and heterozygosity of TAP2 single nucleotide polymorphisms (SNPs) observed in four ethnic groups SNP sequencesa T374A I379V I467V T565A C651R A665T Q687Stop GGT386GGG AAT436AAC Caucasians (n = 76) SNP frequencies: 1.000 0.816 1.000 0.993 0.947 0.849 0.849 0.814 0.908 0.000 0.184 0.000 0.007 0.053 0.151 0.151 0.184 0.092 Heterozygosity: Observed 0 31.6% 0 1.3% 10.5% 25.0% 25.0% 28.9% 18.4% Expected 0 30.0% 0 1.4% 10.0% 25.7% 25.7% 30.0% 16.7% Brazilians (n = 148) SNP frequencies: 0.980 0.868 0.983 0.899 0.960 0.676 0.676 nd nd 0.020 0.132 0.017 0.101 0.040 0.324 0.324 nd nd Heterozygosity: Observed 4.0% 25.0% 3.4% 20.3% 8.1% 54.7%b 54.7%b nd nd Expected 3.9% 22.9% 3.3% 18.2% 7.7% 43.8% 43.8% nd nd Rwandans (n = 285) SNP frequencies: 0.933 0.882 0.947 1.000 0.900 0.698 0.694 0.806 0.993 0.067 0.118 0.053 0.000 0.100 0.302 0.306 0.194 0.007 Heterozygosity: Observed 13.0% 22.5% 10.2% 0 18.6% 43.1% 45.3% 33.3% 1.4% Expected 12.5% 20.8% 10.0% 0 18.0% 42.2% 42.4% 31.3% 11.4% Zambians (n = 117) SNP frequencies: 0.932 0.898 0.949 0.817 1.000 0.765 0.752 0.778 0 0.068 0.102 0.051 0.183 0 0.235 0.248 0.222 0 Heterozygosity: Observed 13.7% 18.8% 10.3% 35.0% 0 40.2% 42.7% 33.3% 0 Expected 12.7% 18.3% 9.7% 29.9% 0 36.0% 37.3% 34.5% 0 Average 9.4% 23.5% 7.3% 11.5% 11.7% 43.1% 44.6% 32.6% 5.1% heterozygosity a At each codon position the less common amino acid or nucleotide sequence is listed first and/or underlined as defined in Figure 1. b P = 0.185 compared with the expected frequency. Login to comment 98 ABCB2 p.Ile379Val
X
ABCB2 p.Ile379Val 11294565:98:122
status: NEW
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 In addition, when cDNA served as the templates, PCR with combinations of the SNP-specific primers was able to link T374A, I379V with I467V, as well as T565A, C651R with A665T. Login to comment