Serine codon 365 (AGT) in exon 8 was changed to alanine (GCT) (p.S365A) using an sgRNA and an ssODN template with CRISPR/Cas9 technology. The mutation changes a phosphorylatable residue in the encoded peptide into a phosphoblocker, which selectively inactivates the IFN signaling activity of the protein. (J:304742)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count