MYH7B

protein-coding

myosin heavy chain 7B, the group of Myosin heavy chains, class II|MicroRNA protein coding host genes

Gene summary

The myosin II molecule is a multi-subunit complex consisting of two heavy chains and four light chains. This gene encodes a heavy chain of myosin II, which is a member of the motor-domain superfamily. The heavy chain includes a globular motor domain, which catalyzes ATP hydrolysis and interacts with actin, and a tail domain in which heptad repeat sequences promote dimerization by interacting to form a rod-like alpha-helical coiled coil. This heavy chain subunit is a slow-twitch myosin. Alternatively spliced transcript variants have been found, but the full-length nature of these variants is not determined. [provided by RefSeq, Mar 2010]

MANE transcript

NM_020884.7

Inheritance

ClinVar variants

P:12U:674B:264

Top phenotype

left ventricular noncompaction

gnomAD constraint

pLI —, LoF o/e 0.79

Max pathogenic AF

—

Genomic locus

chr20:34,955,810-35,002,437

External References & Databases

Ensembl (ENSG00000078814)

Transcript & Mutation Effects

hg38 • Region Span ~46.6 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

left ventricular noncompactionSUPPORTIVE

Inheritance Pattern: AD

Disease ID:MONDO:0018901

Submitter: Orphanet

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to MYH7B variants in ClinVar

10 Conditions Cataloged

not providedTotal: 863

not specifiedTotal: 367

MYH7B-related disorderTotal: 168

Hypertrophic cardiomyopathy 1Total: 8

Short statureTotal: 5

MYH7B-related hypertrophic cardiomyopathyTotal: 3

Hypertrophic cardiomyopathyTotal: 3

Dilated cardiomyopathy with left ventricular noncompactionTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_020884.7. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous			6 clinvar	204 clinvar	14 clinvar	224
missense		5 clinvar	600 clinvar	32 clinvar	14 clinvar	651
nonsense		1 clinvar	21 clinvar			22
start loss			1 clinvar			1
frameshift	2 clinvar	2 clinvar	30 clinvar			34
splice donor/acceptor (+/-2bp)	1 clinvar	1 clinvar	16 clinvar			18
Total	3	9	674	236	28	950

Highest pathogenic variant AF is 0.000014401969

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 29 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_020884.7	RefSeq	NP_065935.4	41	MANE Select
ENST00000262873.13	Ensembl	ENSP00000262873.8	41	MANE Select
ENST00000433934.2	Ensembl	ENSP00000412594.2	3	Standard
ENST00000435272.5	Ensembl	ENSP00000391939.1	3	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Tight junction - Homo sapiens (human)

Molecular Function

motor activity
protein binding
ATP binding
actin filament binding

Cellular Component

membrane
myosin filament
cardiac myofibril

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000262873
Coding exons: 43
Length: 27035
Individuals with no LoFs: 124998
Homozygous LoFs: 0
Heterozygous LoFs: 750
Defined: 125748
p: 0.00299

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.341	1289	1.26e+3	1.03	0.0000892	12757
Missense (PolyPhen)		577	569.48	1.0132		5848
Synonymous	-1.35	581	541	1.07	0.0000378	3937
Loss of Function	2.03	83	105	0.787	0.00000533	1218

Population LoF Frequency

Population	CAF	p-value	Status
African	0.0024	0.0023	notable
Latino/Admixed American	0.0040	0.0039	notable
Ashkenazi Jewish	0	0.0	absent
East Asian	0.0033	0.0032	notable
Finnish	0.00098	0.00097	rare
European (Non-Finnish)	0.0034	0.0034	notable
South Asian	0.0031	0.0030	notable
Other	0.0038	0.0038	notable

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Involved in muscle contraction. {ECO:0000269|PubMed:11919279}.;

Recessive Scores

pRec: 0.324

Intolerance Scores

LoFtool: 0.110
RVIS EVS: -0.89
RVIS percentile EVS: 10.17

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.742

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium