SLAIN1
Chr 13SLAIN family member 1
Also known as: C13orf32
The protein is a microtubule plus-end tracking protein that regulates cytoplasmic microtubule dynamics, organization, and elongation. Mutations cause autosomal recessive developmental and epileptic encephalopathy with microcephaly, typically presenting in infancy with seizures and developmental delay. The gene is highly constrained against loss-of-function mutations (pLI 0.90, LOEUF 0.38), indicating that complete loss of protein function is poorly tolerated.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
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
151 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 | 74 | 0 | 74 |
Likely Pathogenic | 0 | 0 | 0 | 0 | 0 |
VUS | 0 | 49 | 6 | 0 | 55 |
Likely Benign | 0 | 4 | 0 | 2 | 6 |
Benign | 2 | 2 | 0 | 0 | 4 |
| Total | 2 | 55 | 80 | 2 | 139 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
SLAIN1 · 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