This mutation was identified in an ENU mutagenesis screen. It constitutes an A-to-T transversion at nucleotide 1190, which results in replacement of isoleucine by phenylalanine at amino acid position 367 of the protein (I367F).
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count