ENU mutagenesis resulted in an A to G transition at base pair 3,436,475 (v38) on chromosome 2, or base pair 12,684 in the GenBank genomic region NC_000068. The mutation corresponds to residue 431 in the mRNA sequences NM_146114, NM_175683, NM_001110214 within exon 5 of 14, 16, and 15 total exons, respectively. The mutation results in a histidine (H) to arginine (R) substitution at position 115 (H115R). (J:217790)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count