DDX19B
Chr 16DEAD-box helicase 19B
Also known as: DBP5, DDX19, RNAh
The protein is an ATP-dependent RNA helicase that remodels ribonucleoprotein particles during mRNA export from the nucleus, dissociating nuclear mRNA-binding proteins and facilitating their replacement with cytoplasmic mRNA-binding proteins. Mutations in DDX19B cause autosomal dominant neurodevelopmental disorders through a dominant-negative mechanism. The gene shows high tolerance to loss-of-function variants (pLI near zero), consistent with dominant-negative pathogenicity rather than haploinsufficiency.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Moderately missense-constrained (top ~2.5%)
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
DDX19B · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools