Serine codon 351 (TCT) was changed to alanine (GCC) (p.S351A) using an sgRNA (targeting ACTGGAGTTCACCTGTAGAT) and an ssODN template with CRISPR/Cas9 technology. The mutation blocks phosphorylation of the residue in the encoded peptide. (J:342766)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count