This ENU induced mutation has been identified as a G-to-T transversion in exon 10, at nucleotide position 1495 of the cDNA sequence (transcript Scin-001; ENSMUST00000002640), resulting in replacement of glutamine by lysine at amino acid position 459 of the protein (E459K). (J:104190)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count