Cysteine codon 270 (TGC) in exon 4 was changed to serine (AGC) (p.C270S) using an sgRNA (targeting GCTTCTGAGTCAGGTCGGCA) and an ssODN template with CRISPR/Cas9 technology. The mutation blocks alkylation of the residue in the encoded peptide. (J:342735)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count