CRISPR/Cas9 endonuclease-mediated genome editing is used to create amino acid substitutions at positions 461 (lysine to glutamine, K461Q, AAA to CAA), 478 (lysine to glutamine, K478Q, AAG to CAG), and 489 (arginine to glutamine, R489Q, CGG to CAG) located in the activation function 1 (AF1) domain. (J:326815)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count