Lysine codon 608 (AAG) in exon 13 was changed to alanine (GCA) (p.K608A) using an sgRNA and an ssODN template with CRISPR/Cas9 technology. The mutation renders the encoded peptide kinase-dead. (J:307970)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count