This mutation was discovered in a mutagenesis screen. A C-T nonsense mutation at base pair 1063 is predicted to result in the glutamine at amino acid 355 in the encoded protein modified to a stop codon. (J:160207)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count