A C-to-T transition in exon 7 creates a premature TGA termination codon from an arginine codon (p.R111*). Mouse mRNA lacks exon 7 (90 nucleotides in length). Only negligible amounts of truncated protein are produced in the liver. (J:22863)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count