STRAP
Chr 12serine/threonine kinase receptor associated protein
Also known as: MAWD, PT-WD, UNRIP
The STRAP protein is a component of the SMN complex that catalyzes the assembly of small nuclear ribonucleoproteins (snRNPs), which are essential building blocks of the spliceosome responsible for pre-mRNA splicing. This gene is highly constrained against loss-of-function variants (pLI=0.90, LOEUF=0.375), suggesting that mutations would likely cause severe developmental consequences, though no specific Mendelian disease has been definitively associated with STRAP mutations to date. Given its critical role in RNA splicing machinery and high constraint scores, pathogenic variants would be expected to follow an autosomal dominant inheritance pattern.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Moderately missense-constrained (top ~2.5%)
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
92 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 35 | 0 | 35 |
Likely Pathogenic | 0 | 0 | 2 | 0 | 2 |
VUS | 0 | 23 | 9 | 0 | 32 |
Likely Benign | 0 | 0 | 1 | 0 | 1 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 23 | 47 | 0 | 70 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
STRAP · 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
Balance, Autonomic Response, and Sensory Modulation to Dosage of Mechanical Vagal Stimulation in Healthy Adults
RECRUITINGClinical Trial Readiness Network FSHD France: Prospective 24 Months MRI Study
ACTIVE NOT RECRUITINGThe Neuroimage Study of the Neuromuscular Disorders.
RECRUITINGA Combined Multidomain Intervention to Prevent Cognitive Decline Associated With Cardiovascular Risk Factors.
RECRUITINGClenbuterol to Target DUX4 in FSHD
RECRUITINGThermogenic Silencer Regulatory Factors in Humans
RECRUITINGExternal Resources
Links to major genomics databases and tools