This mutation was identified in an ENU mutagenesis screen. Sequence analysis detected a G-to-A exchange at position 95 of the cDNA. This mutation is predicted to cause an alteration of Arg to Gln at amino acid position 32. (J:136139)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count