MAVS

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

Basic information

Region (hg38): 20:3846798-3876123

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.

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.

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				3	2	5
missense			27	2	1	30
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region					2	2
non coding			1			1
Total	0	0	28	5	3

Variants in MAVS

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

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

Position	Type	Phenotype	Significance	ClinVar
20-3854664-C-T		not specified	Uncertain significance (Aug 12, 2021)
20-3854665-G-A		not specified	Likely benign (Oct 26, 2021)
20-3857645-G-C		not specified	Uncertain significance (Apr 22, 2024)
20-3857715-C-T			Benign (May 17, 2018)
20-3857770-G-A		not specified	Uncertain significance (Nov 10, 2022)
20-3857771-C-T		not specified	Uncertain significance (Nov 17, 2022)
20-3857795-A-G		not specified	Uncertain significance (Dec 16, 2023)
20-3857807-C-T		not specified	Uncertain significance (Aug 12, 2021)
20-3857812-G-A			Benign (Mar 29, 2018)
20-3857815-C-T			Benign (Dec 31, 2019)
20-3861344-G-A		not specified	Uncertain significance (Aug 03, 2022)
20-3861460-C-G		not specified	Uncertain significance (Jul 05, 2023)
20-3862377-G-A		not specified	Uncertain significance (May 10, 2024)
20-3862384-A-G		not specified	Uncertain significance (Mar 21, 2023)
20-3864283-G-A		not specified	Uncertain significance (Jul 12, 2022)
20-3864319-T-C		not specified	Uncertain significance (Jun 09, 2022)
20-3864379-C-T		not specified	Uncertain significance (Jan 24, 2023)
20-3864403-C-T		not specified	Uncertain significance (Jan 23, 2024)
20-3864522-G-A		not specified	Uncertain significance (Nov 07, 2022)
20-3864652-T-C		not specified	Uncertain significance (Dec 26, 2023)
20-3864697-C-G		not specified	Uncertain significance (Feb 24, 2022)
20-3864707-G-A			Likely benign (Mar 02, 2018)
20-3864757-C-T		not specified	Uncertain significance (May 20, 2024)
20-3865713-G-A			not provided (-)
20-3865761-G-A			Benign (Apr 06, 2018)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MAVS	protein_coding	protein_coding	ENST00000428216	6	21794

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
6.70e-7	0.474	125725	0	22	125747	0.0000875

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.522	299	325	0.919	0.0000188	3432
Missense in Polyphen		65	74.703	0.87011		863
Synonymous	-0.134	143	141	1.01	0.00000849	1222
Loss of Function	0.752	11	14.0	0.783	7.62e-7	155

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000290	0.0000290
Ashkenazi Jewish	0.00	0.00
East Asian	0.000163	0.000163
Finnish	0.0000467	0.0000462
European (Non-Finnish)	0.000106	0.000105
Middle Eastern	0.000163	0.000163
South Asian	0.000133	0.000131
Other	0.000174	0.000163

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

• 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

	All	Recessive	Dominant
Mendelian	High	High	High
Primary Immunodeficiency	High	High	High
Cancer	High	High	High

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