ENU-induced A to G transition at base pair 128,267,505 (v38) on chromosome 7, or base pair 1,809 in the GenBank genomic region NC_000073 within the donor splice site of intron 4. The effect of the mutation at the cDNA and protein levels has not been examined. The mutation may result in skipping of the 165-base pair exon 4, which would result in an in-frame deletion of amino acids 100 to 154 in the SGLT2 protein, which is normally 670 amino acids long. (J:265117)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count