This mutation, which was discovered in an ENU mutagenesis screen, is a T-to-C transition at nucleotide 1214, resulting in replacement of leucine with proline at amino acid position 398 of the protein (L398P).
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count