The TTN gene homepage

General information
Gene symbol TTN
Gene name titin
Chromosome 2
Chromosomal band q31.2
Imprinted Unknown
Genomic reference LRG_391
Transcript reference NM_001267550.1, NM_133379.4
Associated with diseases CMD1G, CMH9, CMYP5, LGMDR10, MFM9, TMD
Citation reference(s) -
Curators (2) Florian Bayersdorfer and Sabine Heber
Total number of public variants reported 3
Unique public DNA variants reported 3
Individuals with public variants 0
Hidden variants -
Date created May 04, 2023
Date last updated June 16, 2023
Version TTN:230616

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
HGNC 12403
Entrez Gene 7273
PubMed articles TTN
OMIM - Gene 188840
OMIM - Diseases CMD1G (CARDIOMYOPATHY, DILATED, 1G)
CMH9 (CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 9)
CMYP5 (CONGENITAL MYOPATHY 5 WITH CARDIOMYOPATHY)
LGMDR10 (MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10)
MFM9 (MYOPATHY, MYOFIBRILLAR, 9, WITH EARLY RESPIRATORY FAILURE)
TMD (TIBIAL MUSCULAR DYSTROPHY, TARDIVE)
HGMD TTN
GeneCards TTN
GeneTests TTN
Orphanet TTN


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000061 2 transcript variant IC NM_001267550.1 NP_001254479.1 3
00000063 2 transcript variant novex NM_133379.4 NP_596870.2 3


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