Table 2. Polymorphisms in the COX1 Gene (Coding Region and Adjacent Sequence)
Variant allele frequency
Exon/
Intron1 Nucleotide change2 Codon Amino acid change African-American Caucasian Minnesota
Caucasian
n=48 n=47 n=94
Exon/
Intron1 Nucleotide change2 Codon Amino acid change
Exon 2 22C>T CGG>TGG R8W
50C>T CCG>CTG P17L
Exon 3 123G>A CAG>CAA Q41Q
158G>A CGC>CAG R53H
204C>T TGC>TGT C68C
Intron 3 CTTCCG/ATCTTG IVS3+32G>A
-- --
Exon 6 554A>C AAG>ACG K185T
639C>A GGC>GGA G213G
Intron 6 CACGCG/ATATGT IVS6+51G>A
-- --
Exon 7 688G>A GGC>AGC G230S
709C>A CTG>ATG L237M
Intron 7 GGGCC(delA)GGGGG IVS7+14delA
-- --
Intron 7 AGCTGT/CGGGTG IVS7-45T>C
-- --
Exon 9 1022A>G AAG>AGG K341R
Exon 10 1428C>T TCC>TCT S476S
Intron 10 TCTGAT/CGCTAG IVS10-29T>C
-- --
Exon 11 1497G>A GCG>GCA A499A
1512T>C CCT>CCC P504P
http://download.interscience.wiley.com/cgi-bin/fulltext?ID=99018987&PLACEBO=IE.pdf&mode=pdf
http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Search&db=Nucleotide&term=M59979&doptcmdl=GenBank&tool=genome.ucsc.edu
MUTATION IN BRIEF
HUMAN MUTATION Mutation in Brief #551 (2002) O nline
Cyclooxygenase 1 (COX1) Polymorphisms in African-
American and Caucasian Populations
Cornelia M Ulrich1,3 *†, Jeannette Bigler1†, Justin Sibert1, Elizabeth A Greene 2, Rachel Sparks1,3,
Christopher S Carlson4, and John D Potter1,3
1Fred Hutchinson Cancer Research Center, Cancer Prevention Research Program, and 2Bioinformatics Center; 3University of Washington, Department of Epidemiology, and 4Department of Genome Sciences