ENU-induced T to G transversion at base pair 111,229,838 (v38) on chromosome 9, or base pair 41,949 in the GenBank genomic region NC_000075 in the splice donor site of intron 18. The effect of the mutation at the cDNA and protein level have not examined, but the mutation is predicted to result in the use of a cryptic site in intron 18. The resulting transcript would have a 56-base pair insertion of intron 18, which would cause a frame shifted protein product beginning after amino acid 705 of the protein, and terminating after the inclusion of three aberrant amino acids. (J:265208)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count