Serine codon 792 (TCC) in exon 20 was changed to alanine (GCG) (p.S792A) using an sgRNA (targeting CGGCGAGGACTCACCTATGAGGG) and an ssODN template with CRISPR/Cas9 technology. The mutation replaces a phosphorylatable residue in the encoded peptide to a phosphoblocker. (J:303713)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count