Abcg5^trac

Sequencing of the cDNA revealed a G-to-A mutation in exon 10 of the gene, which alters a tryptophan codon 462 (UGG) to a premature stop codon (UAG) (p.W462*). The premature stop codon is predicted to result the expression of a mutant protein that lacks the last 4 transmembrane domains. (J:157223)