FPGT-TNNI3K
Chr 1FPGT-TNNI3K readthrough
This protein functions as a protein kinase involved in peptidyl-serine autophosphorylation and regulation of heart contraction. Mutations cause autosomal recessive dilated cardiomyopathy with ataxia, a condition affecting both cardiac and neurological systems. The gene shows tolerance to loss-of-function variants (pLI near 0, LOEUF 1.425), consistent with the recessive inheritance pattern.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
500 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 | 3 | 0 | 3 |
Likely Pathogenic | 0 | 0 | 0 | 0 | 0 |
VUS | 28 | 282 | 36 | 7 | 353 |
Likely Benign | 0 | 7 | 80 | 50 | 137 |
Benign | 0 | 0 | 4 | 0 | 4 |
| Total | 28 | 289 | 123 | 57 | 497 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
FPGT-TNNI3K · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
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