ENU-induced C to T transition at base pair 140,876,425 (v38) on chromosome 5, or base pair 124,172 in the GenBank genomic region NC_000071 encoding Card11. The mutation corresponds to residue 3,437 in the mRNA sequence NM_175362 within exon 23 of 25 total exons. The mutation results in a proline to leucine substitution at position 1,039 (P1039L) in the CARMA1 protein. (J:272116)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count