This mutation, which was discovered in an ENU mutagenesis screen, comprises an A to C transversion that results in replacement of threonine with proline at amino acid position 293 of the protein (T293P).
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count