TLN1
Chr 9talin 1
Also known as: ILWEQ, TLN, talin-1
Talin-1 is a high molecular weight cytoskeletal protein that connects major cytoskeletal structures to the plasma membrane and organizes cortical microtubule stabilizing complexes at focal adhesions. Mutations cause autosomal recessive limb-girdle muscular dystrophy type 2R, characterized by progressive proximal muscle weakness typically beginning in childhood or adolescence. This gene is highly constrained against loss-of-function variants in the general population.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Among the most LoF-intolerant genes (~top 3%)
Highly missense-constrained (top ~0.1%)
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
TLN1 · 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