This allele has a C to T missense mutation at position 246 in the PY motif of its transactivation domain, resulting in a proline to leucine substitution at amino acid position 59. (J:90701)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count