Gene Information
titin [Source:HGNC Symbol;Acc:HGNC:12403]
TTN variants are associated with 12 diseases including tibial muscular dystrophy and myopathy, myofibrillar, 9, with early respiratory failure and 10 others, with 86 documented clinical phenotypes.
The TTN gene is associated with 12 medical conditions, including:
tibial muscular dystrophy
MONDO:0010870
myopathy, myofibrillar, 9, with early respiratory failure
MONDO:0011362
familial isolated arrhythmogenic ventricular dysplasia, biventricular form
MONDO:0017402
classic multiminicore myopathy
MONDO:0017939
familial atrial fibrillation
MONDO:0018054
early-onset myopathy with fatal cardiomyopathy
MONDO:0012714
familial isolated arrhythmogenic ventricular dysplasia, right dominant form
MONDO:0017403
familial isolated dilated cardiomyopathy
MONDO:0700335
childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome
MONDO:0018759
familial isolated arrhythmogenic ventricular dysplasia, left dominant form
MONDO:0017401
autosomal recessive limb-girdle muscular dystrophy type 2J
MONDO:0012127
autosomal recessive centronuclear myopathy
MONDO:0015705
Research has identified 86 phenotypic features associated with TTN variants:
Neck flexor weakness
HP:0003722
Distal muscle weakness
HP:0002460
Foot dorsiflexor weakness
HP:0009027
Difficulty climbing stairs
HP:0003551
Increased variability in muscle fiber diameter
HP:0003557
Calf muscle hypertrophy
HP:0008981
Difficulty running
HP:0009046
Fatty replacement of skeletal muscle
HP:0012548
Adult onset
HP:0003581
Arrhythmia
HP:0011675
Slowly progressive
HP:0003677
Autosomal recessive inheritance
HP:0000007
Muscular dystrophy
HP:0003560
Proximal muscle weakness
HP:0003701
Atrial fibrillation
HP:0005110
ClinVar contains 10 variants associated with TTN. Below are some notable variants:
NM_001267550.2(TTN):c.49530C>A (p.Tyr16510Ter)
PathogenicVCV004528305
Review: criteria provided, single submitter
NM_001267550.2(TTN):c.72432G>A (p.Trp24144Ter)
Likely pathogenicVCV004528304
Review: criteria provided, single submitter
NM_001267550.2(TTN):c.75532G>A (p.Asp25178Asn)
Uncertain significanceVCV004528284
Review: criteria provided, single submitter
NM_001267550.2(TTN):c.67982T>A (p.Met22661Lys)
Uncertain significanceVCV004528193
Review: criteria provided, single submitter
NM_001267550.2(TTN):c.78661C>A (p.Pro26221Thr)
Uncertain significanceVCV004528191
Review: criteria provided, single submitter
There are 1,355 publications about TTN indexed in PubMed. Below are some recent papers:
Multi-trait polygenic risk scores improve genomic prediction of atrial fibrillation across diverse ancestries.
Jurgens S, Haydarlou P, Kramarenko D
PMID: 41255996
•
2025 Oct 3
•
Res Sq
Sex-based molecular and prognostic disparities in pan-cancer: an analysis across the global cohorts.
Sivakumar G, Patra T, Veeraiyan D
PMID: 41247419
•
2025 Nov 17
•
Clin Transl Oncol
Structure-Guided Engineering of CYP109B4: From Monooxygenase to Peroxygenase for Selective Steroid Hydroxylation.
Zhang X, Wang Y, Jiang X
PMID: 41247079
•
2025 Nov 17
•
J Agric Food Chem
Novel Mutations in Titin Exon 363 With Different Phenotypes Including a Founder Mutation in Eastern Europe.
Sian V, Di Feo MF, Kurbatov S
PMID: 41246854
•
2025 Nov
•
Eur J Neurol
Mechanistic Insights into Tyrosinase-Catalyzed Metabolism of Hydroquinone: Implications for the Etiology of Exogenous Ochronosis and Cytotoxicity to Melanocytes.
Ito S, Kolbe L, Rogers T
PMID: 41226769
•
2025 Nov 4
•
Int J Mol Sci
Get instant, comprehensive insights on TTN variants with Perception.
Trusted Data Sources
Last updated: 11/20/2025