ENU mutagenesis induced a G to T transversion at base pair 53468395 (v38) on Chromosome 13, equivalent to base pair 388435 in the GenBank genomic region NC_000079. The mutation corresponds to residue 648 in the NM_013601 mRNA sequence in exon 2 of 2 total exons. The mutation results in an arginine (R) to leucine (L) substitution at residue 193 (R193L). (J:204501)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count