MTMR14
Chr 3ADmyotubularin related protein 14
Also known as: C3orf29
The protein is a lipid phosphatase that specifically dephosphorylates phosphatidylinositol 3-phosphate and phosphatidylinositol 3,5-bisphosphate at the D-3 position, generating phosphatidylinositol and phosphatidylinositol 5-phosphate. Mutations cause autosomal dominant centronuclear myopathy, a muscle disorder affecting muscle fiber structure and function. The gene shows strong constraint against loss-of-function variants (LOEUF 0.691), suggesting intolerance to protein loss.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
ClinVar Variant Classifications
344 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 | 0 | 0 | 39 | 0 | 39 |
Likely Pathogenic | 0 | 0 | 3 | 0 | 3 |
VUS | 10 | 125 | 23 | 5 | 163 |
Likely Benign | 0 | 3 | 46 | 49 | 98 |
Benign | 0 | 0 | 2 | 5 | 7 |
Conflicting | — | 11 | |||
| Total | 10 | 128 | 113 | 59 | 321 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
MTMR14 · 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