Coriell GM11832
Homo sapiens
Maternal Grandmother;donor subject is heterozygous for an A>C change at nucleotide 1061 (1061A>C) in exon 7 of the CYP2C9 gene (CYP2C9*3) which results in a substitution of leucine for isoleucine at codon 359 Ile359Leu (I359L);donor subject has a single bp (G-to-A) transition at nucleotide 681 in exon 5 of the CYP2C19 gene (CYP2C19*2) which creates an aberrant splice site. The change altered the reading frame of the mRNA starting with amino acid 215 and produced a premature stop codon 20 amino acids downstream;resulting in a truncated;nonfunctional protein. Because of the aberrant splice site;a 40-bp deletion occurred at the beginning of exon 5 (from bp 643 to bp 682);resulting in deletion of amino acids 215 to 227. The truncated protein had 234 amino acids and would be catalytically inactive because it lacked the heme-binding region.
DNA-ID
NA11832
population
CEU
Super Population Code
EUR
Coriell plate
HAPMAPPT01
Population Description
Utah Residents (CEPH) with Northern and Western European ancestry
sex
female
HapMap sample ID
NA11832
Super Population Description
European
culture_collection
CORIELL:GM11832
family_id
1350
Race
Caucasian
family_role
maternal grandmother
cell_line
GM11832
cell_type
B-Lymphocyte
collection
NIGMS Human Genetic Cell Repository
Ethnicity
UTAH/MORMON
tag
International hapmap project - ceph (plate i) utah residents with ancestry from northern and western europe