TRDN

Chr 6AR

triadin

Also known as: CARDAR, CPVT5, TDN, TRISK

This gene encodes an integral membrane protein found in skeletal and cardiac muscle. The encoded protein plays a role in skeletal muscle excitation-contraction coupling as part of the calcium release complex and is required for normal skeletal muscle strength. This protein indirectly links triads and microtubules in skeletal muscle. Mutations in this gene are associated with cardiac arrythmia syndrome and some variants in this gene may be associated with sudden cardiac death. [provided by RefSeq, May 2022]

GeneReviewsOMIMResearchGenerating clinical summary…
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.
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GeneReview available — TRDN
Authoritative clinical overview · Recommended first read
Open GeneReview ↗

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 OE?0.78 (0.601.02)
00.351.4
Missense OE?1.01 (0.921.11)
00.61.4
Synonymous OE?0.99
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.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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