Lysine codon 268 (AAA) in exon 4 was changed to arginine (AGA) (p.K268R) using an sgRNA and an ssODN template with CRISPR/Cas9 technology. The mutation blocks ubiquitination of the residue in the encoded peptide. (J:343892)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count