Coriell GM12815
Homo sapiens
Maternal Grandmother;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.
family_id
1454
Coriell plate
HAPMAPPT01
Race
Caucasian
family_role
maternal grandmother
cell_line
GM12815
Population Description
Utah Residents (CEPH) with Northern and Western European ancestry
cell_type
B-Lymphocyte
Super Population Description
European
DNA-ID
NA12815
Super Population Code
EUR
culture_collection
Coriell:GM12815
collection
NIGMS Human Genetic Cell Repository
HapMap sample ID
NA12815
Ethnicity
UTAH/MORMON
tag
Ceph/utah pedigree 1454
population
CEU
sex
female