SNTB1
Chr 8syntrophin beta 1
Also known as: 59-DAP, A1B, BSYN2, DAPA1B, SNT2, SNT2B1, TIP-43
The encoded protein is an adapter protein that binds to and organizes the subcellular localization of membrane proteins, linking various receptors to the actin cytoskeleton and dystrophin glycoprotein complex. Mutations cause autosomal recessive myasthenia gravis with episodic apnea. This gene is highly constrained against loss-of-function variants, suggesting complete loss of protein function has severe consequences.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Tolerant to missense variation
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
SNTB1 · 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