CRISPR/Cas9 mutagenesis was used to induce three mutations at different sites: two of these (CGA>AGC, TGT>AGC) caused the substitution of serine 260 and threonine 278 with alanine in the encoded protein (p.S260A, p.T278S). The third mutation is a synonymous substitution that removed the PAM site to prevent the sgRNA from binding to the edited allele. (J:276388)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count