Tyrosine codon 5477 (TAC) in exon 52 was changed to alanine (GCT) (p.Y5477A) using an sgRNA and an ssODN template with CRISPR/Cas9 technology. The mutation creates a enzyme-dead version of the encoded peptide. (J:342639)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count