GenTIGS

Titin (TTN) Associated conditions: 1. Limb-girdle muscular dystrophy 2. Left ventricular noncompaction cardiomyopathy 3. Dilated cardiomyopathy 1A 4. Dilated cardiomyopathy 1S 5. Desmin-related myofibrillar myopathy 6. Multiminicore myopathy 7. Restrictive cardiomyopathy

mRNA Information: Transcript Variants and Protein Isoforms

SNo.	Status	mRNA accession	Protein accession	Genomic DNA accession (Chromosome)	mRNA location on genomic DNA	Assembly	UniProtkb ID
1	REVIEWED	NM_001256850.1	NP_001243779.1	NC_000002.12	(178525988..178807422, complement)	Reference GRCh38.p14 Primary Assembly	Q8WZ42
2	REVIEWED	NM_001267550.2	NP_001254479.2	NC_000002.12	(178525988..178807422, complement)	Reference GRCh38.p14 Primary Assembly	Q8WZ42
3	REVIEWED	NM_003319.4	NP_003310.4	NC_000002.12	(178525988..178807422, complement)	Reference GRCh38.p14 Primary Assembly	Q8WZ42
4	REVIEWED	NM_133378.4	NP_596869.4	NC_000002.12	(178525988..178807422, complement)	Reference GRCh38.p14 Primary Assembly	Q8WZ42
5	REVIEWED	NM_133379.5	NP_596870.2	NC_000002.12	(178525988..178807422, complement)	Reference GRCh38.p14 Primary Assembly	Q8WZ42
6	REVIEWED	NM_133432.3	NP_597676.3	NC_000002.12	(178525988..178807422, complement)	Reference GRCh38.p14 Primary Assembly	Q8WZ42
7	REVIEWED	NM_133437.4	NP_597681.4	NC_000002.12	(178525988..178807422, complement)	Reference GRCh38.p14 Primary Assembly	Q8WZ42

Transcript variants arise from alternative splicing during gene expression, producing multiple mRNA transcripts from a single gene, each encoding distinct protein isoforms.

PubMed Links for Transcript Variants (Isoforms)

Link 1470 reference articles

Variant Information Titin (TTN) Mutation Visualization Dashboard: Pathogenic variant distribution chart

IndiGenomes variants: Exploring and mapping pathogenic variants in gene Titin (TTN)

ClinVar variants:Revealing mutagenic patterns

GO Term of Titin (TTN)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	IEA	enables	nucleotide binding	Function	-
2	Homo sapiens	IDA	located_in	condensed nuclear chromosome	Component	9548712
3	Homo sapiens	IPI	enables	protease binding	Function	9642272
4	Homo sapiens	NAS	involved_in	skeletal muscle contraction	Process	16407954
5	Homo sapiens	IMP	involved_in	cardiac muscle hypertrophy	Process	11846417
6	Homo sapiens	IEA	enables	protein kinase activity	Function	-
7	Homo sapiens	IDA	enables	protein serine/threonine kinase activity	Function	9804419
8	Homo sapiens	IEA	enables	protein serine/threonine kinase activity	Function	-
9	Homo sapiens	IDA	enables	protein tyrosine kinase activity	Function	18765796
10	Homo sapiens	IEA	enables	structural molecule activity	Function	-
11	Homo sapiens	IDA	enables	calcium ion binding	Function	7607248
12	Homo sapiens	IPI	enables	protein binding	Function	7607248 9501083 11101506 11448995 11717165 11846417 12482578 14583192 15582318 16407954 16902413 16962094 18157088 19622741 20133654 20489725 20562859 20860623 23414517 25447537 35044719
13	Homo sapiens	IEA	enables	calmodulin binding	Function	-
14	Homo sapiens	IPI	enables	calmodulin binding	Function	7607248
15	Homo sapiens	TAS	enables	calmodulin binding	Function	10481174
16	Homo sapiens	IEA	enables	ATP binding	Function	-
17	Homo sapiens	TAS	located_in	extracellular region	Component	-
18	Homo sapiens	IEA	located_in	nucleus	Component	-
19	Homo sapiens	IEA	located_in	cytoplasm	Component	-
20	Homo sapiens	TAS	located_in	cytosol	Component	-
21	Homo sapiens	IDA	located_in	striated muscle thin filament	Component	11717165
22	Homo sapiens	IEA	involved_in	muscle contraction	Process	-
23	Homo sapiens	NAS	involved_in	muscle contraction	Process	10481174
24	Homo sapiens	TAS	involved_in	muscle contraction	Process	11911777
25	Homo sapiens	TAS	involved_in	striated muscle contraction	Process	7569978
26	Homo sapiens	IEP	involved_in	mitotic chromosome condensation	Process	9548712
27	Homo sapiens	IEA	enables	cytoskeletal protein binding	Function	-
28	Homo sapiens	IBA	enables	structural constituent of muscle	Function	-
29	Homo sapiens	IMP	enables	structural constituent of muscle	Function	9817758 11846417
30	Homo sapiens	TAS	enables	structural constituent of muscle	Function	7569978
31	Homo sapiens	IMP	involved_in	positive regulation of gene expression	Process	25152160
32	Homo sapiens	IEA	located_in	actin cytoskeleton	Component	-
33	Homo sapiens	IEA	enables	kinase activity	Function	-
34	Homo sapiens	IEA	enables	transferase activity	Function	-
35	Homo sapiens	IMP	enables	protein kinase regulator activity	Function	9804419
36	Homo sapiens	IPI	enables	enzyme binding	Function	18310072
37	Homo sapiens	IPI	enables	protein kinase binding	Function	23283722
38	Homo sapiens	IDA	located_in	Z disc	Component	9501083 9817758 11717165 19850579
39	Homo sapiens	IEA	located_in	Z disc	Component	-
40	Homo sapiens	NAS	involved_in	muscle filament sliding	Process	16407954
41	Homo sapiens	IMP	involved_in	skeletal muscle thin filament assembly	Process	9817758
42	Homo sapiens	IMP	involved_in	skeletal muscle myosin thick filament assembly	Process	9817758
43	Homo sapiens	IBA	is_active_in	M band	Component	-
44	Homo sapiens	IDA	located_in	M band	Component	11717165
45	Homo sapiens	IEA	located_in	M band	Component	-
46	Homo sapiens	IPI	enables	telethonin binding	Function	11846417 15582318
47	Homo sapiens	ISS	enables	telethonin binding	Function	-
48	Homo sapiens	IDA	located_in	I band	Component	9817758
49	Homo sapiens	IEA	part_of	protein-containing complex	Component	-
50	Homo sapiens	IDA	acts_upstream_of_or_within	detection of muscle stretch	Process	18765796
51	Homo sapiens	TAS	involved_in	detection of muscle stretch	Process	12507422
52	Homo sapiens	IPI	enables	identical protein binding	Function	9804419 16407954 16962974 23414517
53	Homo sapiens	IPI	enables	protein homodimerization activity	Function	9804419
54	Homo sapiens	IDA	enables	actinin binding	Function	9501083
55	Homo sapiens	IPI	enables	actinin binding	Function	11846417
56	Homo sapiens	IBA	involved_in	sarcomere organization	Process	-
57	Homo sapiens	IEA	involved_in	sarcomere organization	Process	-
58	Homo sapiens	IMP	involved_in	sarcomere organization	Process	9804419 9817758 11846417
59	Homo sapiens	NAS	involved_in	sarcomere organization	Process	16407954
60	Homo sapiens	IEA	enables	metal ion binding	Function	-
61	Homo sapiens	IMP	involved_in	sarcomerogenesis	Process	9817758
62	Homo sapiens	IDA	enables	actin filament binding	Function	9501083
63	Homo sapiens	IPI	enables	muscle alpha-actinin binding	Function	9501083
64	Homo sapiens	IDA	involved_in	response to calcium ion	Process	7607248
65	Homo sapiens	IEA	involved_in	cardiac myofibril assembly	Process	-
66	Homo sapiens	IMP	involved_in	cardiac myofibril assembly	Process	9817758 11846417
67	Homo sapiens	NAS	involved_in	cardiac myofibril assembly	Process	16407954
68	Homo sapiens	IEA	involved_in	cardiac muscle tissue morphogenesis	Process	-
69	Homo sapiens	IMP	involved_in	cardiac muscle tissue morphogenesis	Process	9817758
70	Homo sapiens	IMP	involved_in	cardiac muscle cell development	Process	9817758
71	Homo sapiens	IMP	involved_in	cardiac muscle contraction	Process	11846417
72	Homo sapiens	NAS	involved_in	cardiac muscle contraction	Process	16407954
73	Homo sapiens	HDA	located_in	extracellular exosome	Component	19056867
74	Homo sapiens	IDA	enables	structural molecule activity conferring elasticity	Function	9804419
75	Homo sapiens	TAS	enables	structural molecule activity conferring elasticity	Function	23283722
76	Homo sapiens	IEA	enables	protein serine kinase activity	Function	-
77	Homo sapiens	IMP	involved_in	positive regulation of cAMP/PKA signal transduction	Process	25152160