CRISPR/Cas9 technology generated a lysine to glutamate substitution at amino acid 70 (K70E) in exon 3. This change prevents inositol hexakisphosphate binding at this residue. (J:317457)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count