ENU-induced A to T transversion at base pair 15,687,404 (v38) on chromosome 16, or base pair 49,962 in the GenBank genomic region NC_000082. The mutation corresponds to residue 2,592 in the mRNA sequence NM_011159 within exon 23 of 86 total exons. The mutation results in an isoleucine (I) to leucine (L) substitution at position 857 (I857L) in the protein. (J:255221)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count