GenTIGS

Myosin heavy chain 7 (MYH7) Associated conditions: 1. Congenital myopathy 2. Congenital myopathy with fiber type disproportion 3. Restrictive cardiomyopathy 4. Left ventricular noncompaction cardiomyopathy 5. Dilated cardiomyopathy 1S

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_000257.4	NP_000248.2	NC_000014.9	(23412739..23435659, complement)	Reference GRCh38.p14 Primary Assembly	-
2	REVIEWED	NM_001407004.1	NP_001393933.1	NC_000014.9	(23412739..23435659, complement)	Reference GRCh38.p14 Primary Assembly	-

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 1350 reference articles

Variant Information Myosin heavy chain 7 (MYH7) Mutation Visualization Dashboard: Pathogenic variant distribution chart

IndiGenomes variants: Exploring and mapping pathogenic variants in gene Myosin heavy chain 7 (MYH7)

ClinVar variants:Revealing mutagenic patterns

GO Term of Myosin heavy chain 7 (MYH7)

SNo.	Reported in speceis	Evidence	Qualifier	GO term	Category	Pubmed Link
1	Homo sapiens	IBA	enables	microfilament motor activity	Function	-
2	Homo sapiens	IDA	enables	microfilament motor activity	Function	15621050
3	Homo sapiens	IMP	enables	microfilament motor activity	Function	16088376
4	Homo sapiens	NAS	enables	microfilament motor activity	Function	3021460
5	Homo sapiens	IEA	enables	nucleotide binding	Function	-
6	Homo sapiens	IEA	located_in	stress fiber	Component	-
7	Homo sapiens	IDA	involved_in	regulation of the force of heart contraction	Process	15621050
8	Homo sapiens	IDA	involved_in	regulation of heart rate	Process	15621050
9	Homo sapiens	IMP	involved_in	skeletal muscle contraction	Process	7883988
10	Homo sapiens	IEA	enables	cytoskeletal motor activity	Function	-
11	Homo sapiens	IEA	enables	actin binding	Function	-
12	Homo sapiens	IPI	enables	protein binding	Function	17192269 20847312 25416956 32296183
13	Homo sapiens	IEA	enables	calmodulin binding	Function	-
14	Homo sapiens	IEA	enables	ATP binding	Function	-
15	Homo sapiens	IBA	is_active_in	cytoplasm	Component	-
16	Homo sapiens	IEA	located_in	cytoplasm	Component	-
17	Homo sapiens	TAS	part_of	muscle myosin complex	Component	2249844 3021460
18	Homo sapiens	IDA	involved_in	muscle contraction	Process	15621050
19	Homo sapiens	TAS	involved_in	muscle contraction	Process	15856146
20	Homo sapiens	IDA	involved_in	striated muscle contraction	Process	15621050
21	Homo sapiens	IBA	involved_in	adult heart development	Process	-
22	Homo sapiens	IMP	involved_in	adult heart development	Process	15856146
23	Homo sapiens	IMP	involved_in	regulation of the force of skeletal muscle contraction	Process	7883988
24	Homo sapiens	IEA	part_of	myosin complex	Component	-
25	Homo sapiens	TAS	part_of	myosin complex	Component	12933792
26	Homo sapiens	IBA	part_of	myosin II complex	Component	-
27	Homo sapiens	IEA	part_of	myosin II complex	Component	-
28	Homo sapiens	IEA	located_in	myofibril	Component	-
29	Homo sapiens	ISS	located_in	myofibril	Component	-
30	Homo sapiens	IEA	located_in	sarcomere	Component	-
31	Homo sapiens	ISS	located_in	sarcomere	Component	-
32	Homo sapiens	TAS	located_in	sarcomere	Component	16754800
33	Homo sapiens	IEA	located_in	Z disc	Component	-
34	Homo sapiens	IBA	involved_in	muscle filament sliding	Process	-
35	Homo sapiens	IMP	involved_in	muscle filament sliding	Process	8514894 16088376
36	Homo sapiens	IMP	involved_in	regulation of slow-twitch skeletal muscle fiber contraction	Process	7883988
37	Homo sapiens	IBA	is_active_in	myosin filament	Component	-
38	Homo sapiens	IDA	located_in	myosin filament	Component	19336582
39	Homo sapiens	IEA	located_in	myosin filament	Component	-
40	Homo sapiens	IDA	involved_in	ATP metabolic process	Process	15621050
41	Homo sapiens	IBA	enables	actin filament binding	Function	-
42	Homo sapiens	IEA	enables	actin filament binding	Function	-
43	Homo sapiens	IMP	involved_in	ventricular cardiac muscle tissue morphogenesis	Process	15856146 16754800
44	Homo sapiens	IBA	involved_in	cardiac muscle contraction	Process	-
45	Homo sapiens	IMP	involved_in	cardiac muscle contraction	Process	7883988
46	Homo sapiens	IEA	located_in	supramolecular fiber	Component	-