Otc^spf-ash

A G-to-A missense transition of the last nucleotide of exon 4 changes an arginine to histidine (p.R129H) and results in inefficient mRNA splicing at this site, as well as at a site located 48 bases into the adjacent intron. This allele is hypomorphic; approximately 5-10% of wild-type hepatic enzyme activity is retained. (J:9817)