MAOA

monoamine oxidase A

Basic information

Region (hg38): X:43654907-43746817

Links

ENSG00000189221 ∙ NCBI:4128 ∙ OMIM:309850 ∙ HGNC:6833 ∙ Uniprot:P21397 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• Brunner syndrome (Strong), mode of inheritance: XLR
• Brunner syndrome (Strong), mode of inheritance: XL
• Brunner syndrome (Supportive), mode of inheritance: XL
• Brunner syndrome (Strong), mode of inheritance: XL
• Brunner syndrome (Definitive), mode of inheritance: XL

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Brunner syndrome	XL	General	Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing	Neurologic	8211186; 8503438; 20485326; 22365943; 24169519

ClinVar

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

• Brunner syndrome (3 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MAOA 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				26	4	30
missense		2	69	3	1	75
nonsense			1			1
start loss			1			1
frameshift	3	2				5
inframe indel						0
splice donor/acceptor (+/-2bp)	1		1			2
splice region			6	6		12
non coding			3	20	6	29
Total	4	4	75	49	11

Variants in MAOA

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

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

Position	Type	Phenotype	Significance	ClinVar
X-43655776-C-T			Uncertain significance (Jan 25, 2023)
X-43656344-G-A		Brunner syndrome	Uncertain significance (Oct 18, 2018)
X-43656354-G-C			Uncertain significance (Apr 09, 2024)
X-43656356-G-A		Brunner syndrome	Likely benign (Sep 15, 2022)
X-43656361-C-T			Uncertain significance (Dec 12, 2023)
X-43656371-G-A		Brunner syndrome	Likely benign (Aug 09, 2022)
X-43656397-T-C		Brunner syndrome	Uncertain significance (Nov 05, 2022)
X-43656433-G-C		Brunner syndrome	Likely benign (Jun 11, 2023)
X-43683504-T-A		Brunner syndrome	Likely benign (Nov 06, 2023)
X-43683507-C-T		Brunner syndrome	Likely benign (Dec 31, 2019)
X-43683534-T-C			Uncertain significance (Aug 15, 2018)
X-43683548-G-A		Brunner syndrome	Uncertain significance (Nov 23, 2020)
X-43683572-C-T		Brunner syndrome	Pathogenic/Likely pathogenic (Apr 28, 2022)
X-43683573-G-A		Brunner syndrome	Uncertain significance (Dec 30, 2023)
X-43683576-A-G		Inborn genetic diseases	Uncertain significance (May 31, 2017)
X-43683587-G-A			Uncertain significance (Apr 02, 2019)
X-43683602-A-C		Brunner syndrome	Uncertain significance (Oct 23, 2023)
X-43683602-A-G		Brunner syndrome	Uncertain significance (Jan 17, 2023)
X-43683603-TA-T			Likely pathogenic (Apr 01, 2023)
X-43683610-A-G		Inborn genetic diseases	Uncertain significance (Apr 22, 2022)
X-43683613-T-C		Intellectual disability	Likely benign (Jan 01, 2019)
X-43683616-TTTTAA-T		Brunner syndrome	Benign (Jan 18, 2024)
X-43693294-G-A			Uncertain significance (Jan 28, 2020)
X-43693308-C-T		Brunner syndrome	Likely benign (Feb 23, 2023)
X-43693309-G-A			Uncertain significance (Jun 28, 2019)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MAOA	protein_coding	protein_coding	ENST00000338702	15	90602

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.999	0.000718	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	2.38	119	218	0.546	0.0000173	3442
Missense in Polyphen		16	75.015	0.21329		1141
Synonymous	1.22	66	79.9	0.826	0.00000652	997
Loss of Function	4.24	0	20.9	0.00	0.00000146	366

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Catalyzes the oxidative deamination of biogenic and xenobiotic amines and has important functions in the metabolism of neuroactive and vasoactive amines in the central nervous system and peripheral tissues. MAOA preferentially oxidizes biogenic amines such as 5-hydroxytryptamine (5-HT), norepinephrine and epinephrine.
• Disease: DISEASE: Brunner syndrome (BRNRS) [MIM:300615]: A form of X-linked non-dysmorphic mild mental retardation. Male patients are affected by borderline mental retardation and exhibit abnormal behavior, including disturbed regulation of impulsive aggression. Obligate female carriers have normal intelligence and behavior. {ECO:0000269|PubMed:8211186}. Note=The disease is caused by mutations affecting the gene represented in this entry.
• Pathway: Tryptophan metabolism - Homo sapiens (human);Arginine and proline metabolism - Homo sapiens (human);Serotonergic synapse - Homo sapiens (human);Dopaminergic synapse - Homo sapiens (human);Phenylalanine metabolism - Homo sapiens (human);Histidine metabolism - Homo sapiens (human);Glycine, serine and threonine metabolism - Homo sapiens (human);Drug metabolism - cytochrome P450 - Homo sapiens (human);Amphetamine addiction - Homo sapiens (human);Tyrosine metabolism - Homo sapiens (human);Alcoholism - Homo sapiens (human);Cocaine addiction - Homo sapiens (human);Selective Serotonin Reuptake Inhibitor Pathway, Pharmacodynamics;Tyrosinemia, transient, of the newborn;Dopamine beta-hydroxylase deficiency;Disulfiram Action Pathway;Citalopram Action Pathway;3-Phosphoglycerate dehydrogenase deficiency;Histidine Metabolism;Non Ketotic Hyperglycinemia;Glycine and Serine Metabolism;Tyrosine Metabolism;Alkaptonuria;Citalopram Metabolism Pathway;Monoamine oxidase-a deficiency (MAO-A);Hawkinsinuria;Tyrosinemia Type I;Histidinemia;Dimethylglycine Dehydrogenase Deficiency;Hyperglycinemia, non-ketotic;Dimethylglycine Dehydrogenase Deficiency;Sarcosinemia;Dihydropyrimidine Dehydrogenase Deficiency (DHPD);Serotonin Transporter Activity;Dopamine metabolism;Melatonin metabolism and effects;Amino Acid metabolism;Interleukin-4 and 13 signaling;Oxidative Stress;Neurotransmitter Disorders;Biogenic Amine Synthesis;Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways;Biogenic amines are oxidatively deaminated to aldehydes by MAOA and MAOB;Amine Oxidase reactions;Phase I - Functionalization of compounds;Glycine Serine metabolism;dopamine degradation;Tyrosine metabolism;Biological oxidations;Metabolism;Phenylalanine degradation;Neuronal System;Histidine metabolism;Tryptophan metabolism;Urea cycle and metabolism of arginine, proline, glutamate, aspartate and asparagine;Arginine Proline metabolism;Neurotransmitter release cycle;Enzymatic degradation of dopamine by COMT;Enzymatic degradation of Dopamine by monoamine oxidase;Dopamine clearance from the synaptic cleft;Metabolism of serotonin;Serotonin clearance from the synaptic cleft;Neurotransmitter clearance;serotonin degradation;Tryptophan degradation;superpathway of tryptophan utilization;Transmission across Chemical Synapses;Tyrosine metabolism;noradrenaline and adrenaline degradation;Norepinephrine Neurotransmitter Release Cycle;Histidine degradation;melatonin degradation II;superpathway of melatonin degradation;putrescine degradation III (Consensus)

Intolerance Scores

• rvis_EVS: -0.14
• rvis_percentile_EVS: 43.29

Haploinsufficiency Scores

• pHI: 0.0863
• hipred: Y
• hipred_score: 0.572
• ghis: 0.549

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.965

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Maoa
• Phenotype: homeostasis/metabolism 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); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); 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)

Gene ontology

• Biological process: cellular biogenic amine metabolic process;cytokine-mediated signaling pathway;neurotransmitter metabolic process;neurotransmitter catabolic process;dopamine catabolic process;oxidation-reduction process
• Cellular component: mitochondrion;mitochondrial outer membrane;integral component of membrane
• Molecular function: primary amine oxidase activity