JPH1
Chr 8ADARjunctophilin 1
Also known as: CMT2K, CMYO25, JP-1, JP1
Junctophilin-1 forms junctional membrane complexes that link the plasma membrane with the sarcoplasmic reticulum in skeletal muscle, providing structural foundation for calcium release during muscle contraction. Mutations cause autosomal recessive congenital myopathy with characteristic histopathologic features including abnormal triad structure and calcium handling defects. This gene is highly constrained against loss-of-function variants, indicating critical importance for normal muscle function.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
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. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
JPH1 · 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 →No open access results found
External Resources
Links to major genomics databases and tools