MYL7

myosin light chain 7, the group of Myosin light chains, class 2

Basic information

Region (hg38): 7:44138864-44141332

Links

ENSG00000106631 ∙ NCBI:58498 ∙ OMIM:613993 ∙ HGNC:21719 ∙ Uniprot:Q01449 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MYL7 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MYL7 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			4			4
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding			1			1
Total	0	0	5	0	0

Variants in MYL7

This is a list of pathogenic ClinVar variants found in the MYL7 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
7-44139808-G-C		not specified	Uncertain significance (Jul 20, 2021)
7-44140382-T-C		not specified	Uncertain significance (Sep 22, 2023)
7-44140391-A-G		not specified	Uncertain significance (Aug 13, 2021)
7-44140422-C-A		not specified	Uncertain significance (Jun 02, 2024)
7-44141045-C-A		not specified	Uncertain significance (Jun 03, 2022)
7-44141052-C-T		not specified	Uncertain significance (Oct 24, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MYL7	protein_coding	protein_coding	ENST00000223364	7	2469

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000183	0.265	125718	0	18	125736	0.0000716

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.0571	104	106	0.984	0.00000607	1165
Missense in Polyphen		33	36.208	0.9114		443
Synonymous	0.326	39	41.7	0.936	0.00000269	313
Loss of Function	0.141	9	9.47	0.951	4.01e-7	113

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000310	0.000308
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.00	0.00
European (Non-Finnish)	0.0000801	0.0000791
Middle Eastern	0.0000544	0.0000544
South Asian	0.0000656	0.0000653
Other	0.000168	0.000163

dbNSFP

Source: dbNSFP

• Pathway: Focal adhesion - Homo sapiens (human);Regulation of actin cytoskeleton - Homo sapiens (human);Leukocyte transendothelial migration - Homo sapiens (human);Focal Adhesion;Smooth Muscle Contraction;Muscle contraction (Consensus)

Recessive Scores

• pRec: 0.134

Intolerance Scores

• loftool: 0.586
• rvis_EVS: 0.17
• rvis_percentile_EVS: 65.56

Haploinsufficiency Scores

• pHI: 0.550
• hipred: N
• hipred_score: 0.389
• ghis: 0.466

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.394

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Myl7
• Phenotype: homeostasis/metabolism phenotype; cellular phenotype; muscle phenotype; growth/size/body region phenotype; embryo phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span)

Zebrafish Information Network

• Gene name: myl7
• Affected structure: cardiac muscle cell
• Phenotype tag: abnormal
• Phenotype quality: decreased size

Gene ontology

• Biological process: muscle contraction
• Cellular component: cytosol;myosin complex;A band;dendritic spine
• Molecular function: calcium ion binding;protein binding