SRPRA
Chr 11SRP receptor subunit alpha
Also known as: DP, SRPR, Sralpha
The protein is a subunit of the endoplasmic reticulum signal recognition particle receptor that ensures correct targeting of nascent secretory and membrane proteins to the ER membrane system through GTP-dependent interactions with SRP54. Mutations cause autosomal recessive intellectual developmental disorder with seizures, hypotonia, and brain abnormalities, with onset typically in infancy or early childhood. The gene is highly constrained against loss-of-function variants (LOEUF 0.39), indicating that complete loss of function is poorly tolerated.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
156 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 | 1 | 64 | 0 | 65 |
Likely Pathogenic | 0 | 0 | 2 | 0 | 2 |
VUS | 1 | 43 | 7 | 0 | 51 |
Likely Benign | 0 | 0 | 1 | 5 | 6 |
Benign | 0 | 1 | 1 | 0 | 2 |
| Total | 1 | 45 | 75 | 5 | 126 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
SRPRA · 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