ENU treatment induced a C-to-T mutation at position 238 of the encoded mRNA that altered codon 80 from an arginine to a stop codon (p.R80*). If the peptide is translated, it will lack the domains required for guanine nucleotide and Rab effector binding. (J:70423)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count