Tmem106b^em3Damme

CRISPR/Cas9 technology generated an CT to GC change resulting in a threonine to serine substitution at amino acid 186 (p.T186S) in exon 6. Additional silent mutations were introduced to suppress further Cas9 cleavage activity. This variant is a modifier of disease risk in frontotemporal lobar degeneration patients with progranulin mutations and is a protective allele. (J:336032)