A S365A (nucleotide change AGT to GCT) mutation is introduced to a phosphorylation site in exon 8. A silent CCA to CCT mutation at amino acid 360 was introduced for genotyping purposes and to prevent Cas9/gRNA from targeting already edited sequences. The mutation disrupts IRF3 binding. (J:304755)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count