SEPSECS
Chr 4ARSep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase
Also known as: LP, PCH2D, SLA, SLA-p35, SLA/LP, SecS
This enzyme converts O-phosphoseryl-tRNA(Sec) to selenocysteinyl-tRNA(Sec), which is essential for selenoprotein biosynthesis. Biallelic mutations cause pontocerebellar hypoplasia type 2D, an autosomal recessive neurodevelopmental disorder affecting the brainstem and cerebellum. The gene shows very low constraint against loss-of-function variants (pLI near zero), consistent with recessive inheritance where heterozygous carriers are typically unaffected.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
SEPSECS · 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
External Resources
Links to major genomics databases and tools