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This database is one of the gene variant databases from the "Leiden Muscular Dystrophy pages" (LMDp). TTN exon inclusion table.
General information
Gene symbol TTN
Gene name titin
Chromosome 2
Chromosomal band q31
Imprinted Unknown
Genomic reference LRG_391
Transcript reference NM_001267550.1, NM_133379.3
Associated with diseases CMD-1G, CMH-9, HMERF, LGMD-2J, TMD, myopathy, early-onset, with fatal cardiomyopathy
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (2) Claire Chauveau and Johan den Dunnen
Total number of public variants reported 1277
Unique public DNA variants reported 998
Individuals with public variants 4174
Hidden variants 4
Notes This database is one of the gene variant databases from the:
The database uses TTN coding DNA reference sequence NM_001267550.1. For details see the TTN coding DNA reference sequence.
Date created January 01, 2006
Date last updated September 16, 2016
Version TTN:160916

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
Homepage URL
External URL Orphanet
Finnish Disease Database (FinDis)
HGNC 12403
Entrez Gene 7273
PubMed articles TTN
OMIM - Gene 188840
OMIM - Diseases CMD-1G (cardiomyopathy, dilated, type 1G (CMD-1G))
CMH-9 (cardiomyopathy, hypertrophic, familial, type 9 (CMH-9))
HMERF (myopathy, hereditary with early respiratory failure (HMERF))
LGMD-2J (dystrophy, muscular, limb-girdle, type 2J (LGMD-2J))
TMD (dystrophy, muscular, tibial (TMD))
myopathy, early-onset, with fatal cardiomyopathy
GeneCards TTN
GeneTests TTN

Active transcripts




NCBI ID     

NCBI Protein ID     

00001778 2 transcript variant IC NM_001267550.1 NP_001254479.1 1277
00024119 2 transcript variant novex-3 NM_133379.3 NP_596870.2 32

Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised use, copying, storage or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2006-2016. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.