Cysteine codon 481 (TGC) in exon 15 was changed to serine (TCC) (p.C481S) using an sgRNA and an ssODN template with CRISPR/Cas9 technology. The mutation renders the encoded peptide insensitive to B-cell proliferation and survival inhibitor ibrutinib. (J:340979)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count