This mutation, which was originally identified in an ENU mutagenesis screen, comprises a T-to-A transversion at nucleotide 1111 that results in substitution of asparagine for isoleucine at amino acid position 195 of the protein (I195N).
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count