Aspartic acid codon 249 (GAC) was changed to alanine (GCT) (p.D249A) using an sgRNA and ssODN template with CRISPR/Cas9 technology. The mutation eliminates the caspase 7 cleavage site in the encoded peptide. (J:326897)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count