Serine codon 182 (AGT) (in reference to the shorter t isoform) was changed to alanine (GCT) (p.S182A) using an sgRNA and an ssODN template with CRISPR/Cas9 technology. This mutation prevents phosphorylation of the residue in the encoded peptide. (J:324904)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count