STRADA
Chr 17ARSTE20 related adaptor alpha
Also known as: LYK5, NY-BR-96, PMSE, STLK5, STRAD, STRAD alpha, Stlk
The protein is a pseudokinase that forms a complex with CAB39 and activates STK11/LKB1, which is essential for STK11-induced cell cycle arrest and cellular energy sensing. Biallelic mutations cause polyhydramnios, megalencephaly, and symptomatic epilepsy (PMSE) syndrome through an autosomal recessive inheritance pattern. Disease results from loss-of-function mutations that disrupt the protein's ability to activate STK11/LKB1.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
Biallelic LOF causes polyhydramnios, megalencephaly, and symptomatic epilepsy (PMSE). LOF disrupts LKB1-AMPK-mTOR signaling. GOF prediction is incorrect.
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
200 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 | 9 | 0 | 2 | 0 | 11 |
Likely Pathogenic | 3 | 0 | 0 | 0 | 3 |
VUS | 2 | 57 | 3 | 0 | 62 |
Likely Benign | 2 | 4 | 62 | 44 | 112 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 16 | 61 | 67 | 44 | 188 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
STRADA · 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
Dinutuximab With Chemotherapy, Surgery and Stem Cell Transplantation for the Treatment of Children With Newly Diagnosed High Risk Neuroblastoma
RECRUITINGNCI COVID-19 in Cancer Patients, NCCAPS Study
ACTIVE NOT RECRUITINGStudy of Kidney Tumors in Younger Patients
ACTIVE NOT RECRUITINGA Study to Compare Standard Chemotherapy to Therapy With CPX-351 and/or Gilteritinib for Patients With Newly Diagnosed AML With or Without FLT3 Mutations
RECRUITINGBiomarkers in Tumor Tissue Samples From Patients With Newly Diagnosed Neuroblastoma or Ganglioneuroblastoma
ACTIVE NOT RECRUITINGA Study of a New Drug, Nirogacestat, for Treating Desmoid Tumors That Cannot be Removed by Surgery
ACTIVE NOT RECRUITINGExternal Resources
Links to major genomics databases and tools