This mutation, which was identified in an ENU mutagenesis screen, comprises a T-to-C transition at nucleotide 412 that results in replacement of arginine with cystein at amino acid position 138 of the protein (R138C).
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count