CRISPR/Cas9 technology introduced an asparagine to alanine substitution at amino acid 256 (p.N256A). This mutation abolishes the enzymes GAP activity. (J:319414)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count