Cysteine codon 857 (TGT) in exon 22 was changed to serine (TCC) (p.C857S) using a crRNA and an ssODN template with CRISPR/Cas9 technology. The mutation blocks farnesylation of the residue in the encoded peptide. (J:343953)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count