BioSample

Maternal Grandfather;subsequent to the submission of this sample and the establishment of the cell line;a detailed analysis of HapMap data has shown that the sample is from an unreported relative of another member or members of this panel;as described in Nature 437:1299-1320 (2005). (See Supplementary Table 15 and Supplementary Information on p.12. PMID: 16255080 );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.