escription:

CEPH/UTAH PEDIGREE 1463

INTERNATIONAL HAPMAP PROJECT - CEPH (PLATE I) [UTAH RESIDENTS WITH ANCESTRY FROM NORTHERN AND WESTERN EUROPE]

CYTOCHROME P450, SUBFAMILY IIC, POLYPEPTIDE 19; CYP2C19

INTERNATIONAL HAPMAP PROJECT - CEPH [UTAH RESIDENTS WITH ANCESTRY FROM NORTHERN AND WESTERN EUROPE]

NA CUSTOM SERVICE PLATE 01

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Repository	NIGMS Human Genetic Cell Repository
Subcollection	CEPH Repository Linkage Families Pharmacogenetics PIGI Consented Sample
Quantity	25 μg
Quantitation Method	Please see our FAQ
Biopsy Source	Peripheral vein
Cell Type	B-Lymphocyte
Tissue Type	Blood
Transformant	Epstein-Barr Virus
Sample Source	DNA from LCL
Race	White
Ethnicity	UTAH/MORMON
Country of Origin	USA
Family Member	2
Relation to Proband	mother
Confirmation	Clinical summary/Case history
Species	Homo sapiens
Common Name	Human
Remarks	Mother; 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.