Serine codon 42 (AGT) was changed to alanine (GCT) (p.S42A) using an sgRNA and an ssODN template with CRISPR/Cas9 technology. This mutation prevents phosphorylation of the highly conserved residue in the CBP region. (J:327336)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count