MAOB

monoamine oxidase B

Basic information

Region (hg38): X:43766610-43882450

Links

ENSG00000069535 ∙ NCBI:4129 ∙ OMIM:309860 ∙ HGNC:6834 ∙ Uniprot:P27338 ∙ 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 MAOB gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MAOB 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	4	7
missense			16	1		17
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region					1	1
non coding				1		1
Total	0	0	16	5	4

Variants in MAOB

This is a list of pathogenic ClinVar variants found in the MAOB 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-43767515-G-A		not specified	Uncertain significance (Apr 24, 2024)
X-43767564-C-T		not specified	Uncertain significance (Jun 12, 2023)
X-43767565-G-A			Likely benign (Mar 06, 2018)
X-43767585-A-T			Likely benign (Mar 29, 2018)
X-43767586-A-G			Benign (Mar 29, 2018)
X-43767598-G-A			Likely benign (Feb 01, 2023)
X-43768646-T-C			Benign (May 08, 2018)
X-43775281-T-C			Likely benign (Mar 01, 2018)
X-43781451-A-G		not specified	Uncertain significance (Mar 01, 2024)
X-43781485-C-T		not specified	Uncertain significance (May 23, 2023)
X-43793505-A-G		not specified	Uncertain significance (Feb 03, 2022)
X-43793510-T-C			Benign (Apr 09, 2018)
X-43795782-C-T		not specified	Uncertain significance (Mar 27, 2023)
X-43797156-G-C		not specified	Uncertain significance (Oct 16, 2023)
X-43797262-C-A		not specified	Uncertain significance (May 06, 2022)
X-43802185-G-A		not specified	Uncertain significance (Mar 24, 2023)
X-43802189-G-C		not specified	Uncertain significance (Apr 05, 2023)
X-43802215-T-C		not specified	Uncertain significance (Jan 03, 2024)
X-43802246-T-C			Benign (May 18, 2018)
X-43802257-T-G		not specified	Uncertain significance (Nov 28, 2023)
X-43803363-C-A		not specified	Uncertain significance (Dec 27, 2023)
X-43838925-C-A		not specified	Uncertain significance (Dec 01, 2023)
X-43838972-A-C		not specified	Uncertain significance (Nov 30, 2022)
X-43843690-C-T		not specified	Uncertain significance (Jul 12, 2023)
X-43843720-C-T		not specified	Uncertain significance (Sep 22, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
MAOB	protein_coding	protein_coding	ENST00000378069	15	115836

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.999	0.000966	125072	2	0	125074	0.00000800

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.75	118	185	0.638	0.0000135	3358
Missense in Polyphen		18	64.934	0.2772		1111
Synonymous	-0.564	73	67.1	1.09	0.00000490	1010
Loss of Function	4.16	0	20.1	0.00	0.00000147	375

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.000135	0.0000996
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	0.0000554	0.0000330
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. MAOB preferentially degrades benzylamine and phenylethylamine.
• 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);Citalopram Action Pathway;Citalopram Metabolism Pathway;Dopamine metabolism;Tryptophan metabolism;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;tryptophan degradation via tryptamine;Histidine metabolism;Tryptophan metabolism;Urea cycle and metabolism of arginine, proline, glutamate, aspartate and asparagine;Arginine Proline metabolism;Tryptophan degradation;superpathway of tryptophan utilization;Tyrosine metabolism;noradrenaline and adrenaline degradation;Histidine degradation;Alpha-synuclein signaling;putrescine degradation III (Consensus)

Recessive Scores

• pRec: 0.481

Intolerance Scores

• loftool: 0.0976
• rvis_EVS: -0.63
• rvis_percentile_EVS: 17.03

Haploinsufficiency Scores

• pHI: 0.503
• hipred: Y
• hipred_score: 0.712
• ghis: 0.564

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.979

Gene Damage Prediction

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

Mouse Genome Informatics

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

Gene ontology

• Biological process: response to aluminum ion;response to selenium ion;negative regulation of serotonin secretion;substantia nigra development;electron transport chain;response to lipopolysaccharide;neurotransmitter catabolic process;dopamine catabolic process;response to ethanol;positive regulation of dopamine metabolic process;hydrogen peroxide biosynthetic process;response to corticosterone
• Cellular component: mitochondrion;mitochondrial envelope;mitochondrial outer membrane;integral component of membrane
• Molecular function: primary amine oxidase activity;electron transfer activity;protein homodimerization activity;flavin adenine dinucleotide binding