ENU-induced T to C transition at base pair 111,315,567 (v38) on chromosome 8, or base pair 22,890 in the GenBank genomic region NC_000074. The mutation is within intron eight, 25 base pairs away from exon 9 (out of 11 total exons). The effect of the mutation on the mRNA sequence and protein expression is unknown. In the event of exon 9 skipping, the aberrant transcript would have a deletion of the 50 base pair exon 9, leading to a frame-shift occurring after amino acid 383 of the protein (isoform 1), and termination after the inclusion of two aberrant amino acids. (J:234252)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count