Tyrosine codon 402 (TAT) in exon 13 was changed to phenylalanine (TTT) (p.Y402F) using an sgRNA and an ssODN template (GGGCTGGGCCCCTTTCTGTCATTACAGAGTCAGACATCTTTGCAGAGATTCCCGATGAGACCCTGCGAAGACCAGGAGG) with CRISPR/Cas9 technology. This mutation prevents autophosphorylation of the residue in the encoded peptide. (J:307509)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count