ENU mutagenesis induced an A to T transversion in exon 6 results in the amino acid substitution of valine for aspartic acid at position 217 (D217V). This mutation is predicted to slightly increase overall glucokinase stability and favor torsion. (J:189544)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count