title: Coriell GM12763
organism: Homo sapiens
description: 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.
attributes.tag: family_id
attributes.value: 1447
attributes.tag: Coriell plate
attributes.value: HAPMAPPT01
attributes.tag: Race
attributes.value: Caucasian
attributes.tag: family_role
attributes.value: maternal grandmother
attributes.tag: cell_line
attributes.value: GM12763
attributes.tag: Population Description
attributes.value: Utah Residents (CEPH) with Northern and Western European ancestry
attributes.tag: cell_type
attributes.value: B-Lymphocyte
attributes.tag: Super Population Description
attributes.value: European
attributes.tag: DNA-ID
attributes.value: NA12763
attributes.tag: Super Population Code
attributes.value: EUR
attributes.tag: culture_collection
attributes.value: Coriell:GM12763
attributes.tag: collection
attributes.value: NIGMS Human Genetic Cell Repository
attributes.tag: HapMap sample ID
attributes.value: NA12763
attributes.tag: Ethnicity
attributes.value: UTAH/MORMON
attributes.tag: tag
attributes.value: International hapmap project - ceph (plate i) utah residents with ancestry from northern and western europe
attributes.tag: population
attributes.value: CEU
attributes.tag: sex
attributes.value: female