Serine codon 55 (AGT) in exon 5 was changed to aspartic acid (GAT) (p.S55D) using an sgRNA and an ssODN template with CRISPR/Cas9 technology. The mutation changes the phosphorylatable residue in the encoded peptide to a phosphomimetic. (J:342731)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count