SNUPN
Chr 15ARsnurportin 1
Also known as: KPNBL, LGMDR29, RNUT1, Snurportin1
The protein functions as a nuclear import receptor that specifically recognizes the trimethylguanosine cap structure of spliceosomal U snRNPs and facilitates their transport into the nucleus. Mutations cause limb-girdle muscular dystrophy type 29, which follows autosomal recessive inheritance. The gene shows extreme intolerance to loss-of-function variants (pLI ~1.0), indicating that biallelic variants are required for disease manifestation.
Strong evidence — appropriate for clinical testing
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
105 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 | 28 | 0 | 28 |
Likely Pathogenic | 2 | 0 | 3 | 0 | 5 |
VUS | 0 | 46 | 10 | 0 | 56 |
Likely Benign | 0 | 3 | 0 | 0 | 3 |
Benign | 0 | 0 | 0 | 0 | 0 |
Conflicting | — | 1 | |||
| Total | 2 | 49 | 41 | 0 | 93 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
SNUPN · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
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