ENU-induced A to T transversion at base pair 140,913,309 (v38) on chromosome 5, or base pair 87,288 in the GenBank genomic region NC_000071 encoding Card11. The mutation corresponds to residue 430 in the mRNA sequence NM_175362 within exon 3 of 25 total exons. The mutation results in an isoleucine to phenylalanine substitution at position 37 (I37F) in the CARMA1 protein. (J:274762)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count