CNTN1
Chr 12ARcontactin 1
Also known as: CMYO12, CMYP12, F3, GP135, MYPCN
This gene encodes contactin-1, a GPI-anchored neuronal membrane protein that mediates cell surface interactions during nervous system development and participates in the formation of paranodal axo-glial junctions in myelinated peripheral nerves. Mutations cause congenital myopathy 12, which follows an autosomal recessive inheritance pattern. The gene is highly constrained against loss-of-function variants (LOEUF 0.373), reflecting its critical role in nervous system function.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Moderately missense-constrained (top ~2.5%)
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
CNTN1 · 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