TABLE IV.
SNPa | Nucleotide positionb | Location in gene | Previously reported allele frequency | This study overall allele frequency (n = 157)c |
---|---|---|---|---|
T-261G | −261 | 5′ untranslated region | 49% (n = 46) [Nothen et al., 1994] | 32.7% |
−184/− 183 dinucleotide deletion | −182, −181 | 5′ untranslated region | Not previously reported | 0.6% |
−182/− 181 dinucleotide deletion | −182, −181 | 5′ untranslated region | Not previously reportedd | 2.9% |
A-161T | −161 | 5′ untranslated region | Not previously reportedd | 18.3% |
C129T | 129 | N-terminal domain (synonymous) | 17% (n= 178) [Huang et al., 1999] | 26.8% |
G861C | 861 | Intracellular loop III (synonymous) | 23% (n = 640)e; 62% (n = 418)e [Lappalainen et al., 1995]; 26.8% 17% (n = 178) [Huang et al., 1999] | 26.8% |
A1180G | 1180 | 3′ untranslated region | Not previously reportedd | 5.8% |
SNPs are named according to their position within the gene with the most commonly occurring nucleotide placed before the nucleotide position and the variant allelic nucleotide following the position.
Nucleotide position is defined according to the numbering scheme that designates the first nucleotide of the start codon as position +1.
For T-261G and A1180G, n = 156 due to ambiguous sequencing data from one subject for each allele, respectively; for A-161T, n=210 due to the genotyping of an additional 53 subjects at this position.
Following completion of the work for this study and submission of this article, these polymorphisms were found to be reposited in the National Center for Biotechnology Information SNP database, with an initial release date of 29 January, 2001. These polymorphisms have not previously been specifically reported in a scientific communication.
Two separate ethnic populations were surveyed in this report.