TRDN

Chr 6AR

triadin

Also known as: CARDAR, CPVT5, TDN, TRISK

Triadin is an integral membrane protein of the sarcoplasmic reticulum that regulates calcium release through RYR1 and RYR2 channels, which is essential for skeletal and cardiac muscle contraction and normal skeletal muscle strength. Autosomal recessive mutations cause cardiac arrhythmia syndrome with or without skeletal muscle weakness. This gene is not highly constrained against loss-of-function variants, consistent with its recessive inheritance pattern.

OMIMResearchSummary from RefSeq, OMIM, UniProt
LOFmechanismARLOEUF 1.021 OMIM phenotype
Clinical SummaryTRDN
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Gene-Disease Validity (ClinGen)
catecholaminergic polymorphic ventricular tachycardia · ARDefinitive

Definitive — sufficient evidence for diagnostic panels

2 total gene-disease associations curated

Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint
1.02LOEUF
pLI 0.000
Z-score 1.46
OE 0.78 (0.601.02)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
-0.08Z-score
OE missense 1.01 (0.921.11)
294 obs / 290.3 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE0.78 (0.601.02)
00.351.4
Missense OE1.01 (0.921.11)
00.61.4
Synonymous OE0.99
01.21.6
LoF obs/exp: 39 / 50.1Missense obs/exp: 294 / 290.3Syn Z: 0.08

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

TRDN · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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