ENU-mutagenesis induced a point mutation (G to A) that results in the amino acid substitution of glycine with arginine at position 278 (p.G278R) in the encoded protein. The predicted protein is a dominant negative form. (J:179743)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count