GeneBe

MAVS

mitochondrial antiviral signaling protein, the group of Caspase recruitment domain containing

Basic information

Region (hg38): 20:3846799-3876123

Links

ENSG00000088888 ∙ NCBI:57506 ∙ OMIM:609676 ∙ HGNC:29233 ∙ Uniprot:Q7Z434 ∙ 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 MAVS gene.

  • not_specified (56 variants)
  • not_provided (9 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MAVS gene is commonly pathogenic or not. These statistics are base on transcript: NM_000020746.5. Only rare variants are included in the table.

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.

EffectPLPVUSLBBSum
synonymous
3
clinvar
2
clinvar
 5
missense
53
clinvar
4
clinvar
1
clinvar
 58
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 53 7 3
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
MAVSprotein_codingprotein_codingENST00000428216 621794
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
6.70e-70.4741257250221257470.0000875
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.5222993250.9190.00001883432
Missense in Polyphen6574.7030.87011863
Synonymous-0.1341431411.010.000008491222
Loss of Function0.7521114.00.7837.62e-7155

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.00002900.0000290
Ashkenazi Jewish0.000.00
East Asian0.0001630.000163
Finnish0.00004670.0000462
European (Non-Finnish)0.0001060.000105
Middle Eastern0.0001630.000163
South Asian0.0001330.000131
Other0.0001740.000163

dbNSFP

Source: dbNSFP

Function
FUNCTION: Required for innate immune defense against viruses. Acts downstream of DHX33, DDX58/RIG-I and IFIH1/MDA5, which detect intracellular dsRNA produced during viral replication, to coordinate pathways leading to the activation of NF-kappa-B, IRF3 and IRF7, and to the subsequent induction of antiviral cytokines such as IFN-beta and RANTES (CCL5). Peroxisomal and mitochondrial MAVS act sequentially to create an antiviral cellular state. Upon viral infection, peroxisomal MAVS induces the rapid interferon- independent expression of defense factors that provide short-term protection, whereas mitochondrial MAVS activates an interferon- dependent signaling pathway with delayed kinetics, which amplifies and stabilizes the antiviral response. May activate the same pathways following detection of extracellular dsRNA by TLR3. May protect cells from apoptosis. {ECO:0000250|UniProtKB:Q8VCF0, ECO:0000269|PubMed:16125763, ECO:0000269|PubMed:16127453, ECO:0000269|PubMed:16153868, ECO:0000269|PubMed:16177806, ECO:0000269|PubMed:19631370, ECO:0000269|PubMed:20451243, ECO:0000269|PubMed:23087404}.;
Pathway
Influenza A - Homo sapiens (human);Cytosolic DNA-sensing pathway - Homo sapiens (human);NOD-like receptor signaling pathway - Homo sapiens (human);Hepatitis C - Homo sapiens (human);Hepatitis B - Homo sapiens (human);Measles - Homo sapiens (human);RIG-I-like receptor signaling pathway - Homo sapiens (human);Herpes simplex infection - Homo sapiens (human);RIG-I-like Receptor Signaling;NF-kB activation through FADD/RIP-1 pathway mediated by caspase-8 and -10;Post-translational protein modification;TRAF6 mediated IRF7 activation;TRAF6 mediated NF-kB activation;DDX58/IFIH1-mediated induction of interferon-alpha/beta;Metabolism of proteins;Innate Immune System;Immune System;TRAF3-dependent IRF activation pathway;Negative regulators of DDX58/IFIH1 signaling;Ovarian tumor domain proteases;Deubiquitination (Consensus)

Intolerance Scores

loftool
0.864
rvis_EVS
0.14
rvis_percentile_EVS
63.64

Haploinsufficiency Scores

pHI
hipred
Y
hipred_score
0.518
ghis
0.431

Essentials

essential_gene_CRISPR
N
essential_gene_CRISPR2
N
essential_gene_gene_trap
N
gene_indispensability_pred
E
gene_indispensability_score
0.698

Gene Damage Prediction

AllRecessiveDominant
MendelianHighHighHigh
Primary ImmunodeficiencyHighHighHigh
CancerHighHighHigh

Mouse Genome Informatics

Gene name
Mavs
Phenotype
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); hematopoietic system 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); respiratory system phenotype; renal/urinary system phenotype; immune system phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); digestive/alimentary phenotype; muscle phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); homeostasis/metabolism phenotype;

Gene ontology

Biological process
positive regulation of protein phosphorylation;activation of innate immune response;positive regulation of defense response to virus by host;positive regulation of myeloid dendritic cell cytokine production;regulation of transcription, DNA-templated;signal transduction;viral process;negative regulation of type I interferon production;positive regulation of interferon-alpha production;positive regulation of interferon-beta production;positive regulation of interleukin-8 production;positive regulation of tumor necrosis factor production;obsolete positive regulation of protein import into nucleus, translocation;positive regulation of interferon-beta secretion;defense response to bacterium;positive regulation of I-kappaB kinase/NF-kappaB signaling;negative regulation of viral genome replication;innate immune response;positive regulation of transcription by RNA polymerase II;positive regulation of DNA-binding transcription factor activity;defense response to virus;positive regulation of type I interferon-mediated signaling pathway;positive regulation of response to cytokine stimulus;cellular response to exogenous dsRNA;positive regulation of chemokine (C-C motif) ligand 5 production;positive regulation of IP-10 production;regulation of peroxisome organization;positive regulation of interferon-alpha secretion;positive regulation of tumor necrosis factor secretion;positive regulation of interleukin-6 secretion
Cellular component
mitochondrion;mitochondrial outer membrane;peroxisomal membrane;integral component of membrane;mitochondrial membrane
Molecular function
protein binding;protein kinase binding;signaling adaptor activity;CARD domain binding