This mutation was discovered in an ENU mutagenesis screen. It causes a T-to-A transversion at nucleotide 2263 of the mRNA, which in turn results in substitution of lysine for methionine at amino acid 654 of the protein (M654K). (J:105311)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count