ConVarT

ClinVar Data

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Variation ID	Allele ID	RS Number	Variant Type	Record	Alteration	Clinicial Sig.	Last Update	Phenotypes	Cytogenetic	Review Status	RCV Acc.N.

gnomAD

Missense Variant

Splice Region Variant

Start Lost

Stop Gained

Synonymous Variant

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Variant ID	Transcript ID	Alteration	Annotation	Allele C.	Allele N.	Allele F.	rsNumber
X-43571214-G-A	ENST00000542639	p.Met1?	Start Lost	0	0	0	rs771740634
X-43571959-C-A	ENST00000542639	p.Thr7Asn	Missense Variant	0	0	0	rs1478242172
X-43571961-G-A	ENST00000542639	p.Asp8Asn	Missense Variant	1	21832	0.000046	rs373044189
X-43571966-A-C	ENST00000542639	p.Ala9Ala	Synonymous Variant	0	0	0	rs778063152
X-43571977-C-T	ENST00000542639	p.Ala13Val	Missense Variant	2	21850	0.000092	rs199524208
X-43571992-A-T	ENST00000542639	p.Lys18Ile	Missense Variant	0	0	0	rs757141278
X-43572008-C-T	ENST00000542639	p.Thr23Thr	Synonymous Variant	0	0	0
X-43572014-A-G	ENST00000542639	p.Lys25Lys	Synonymous Variant	0	0	0	rs1170544291
X-43572022-T-C	ENST00000542639	p.Ile28Thr	Missense Variant	0	0	0	rs574432879
X-43572023-T-G	ENST00000542639	p.Ile28Met	Missense Variant	0	0	0	rs1424585006
X-43572024-G-C	ENST00000542639	p.Asp29His	Missense Variant	0	0	0	rs1301903802
X-43572030-A-G	ENST00000542639	p.Ile31Val	Missense Variant	0	0	0	rs745842135
X-43572030-A-T	ENST00000542639	p.Ile31Phe	Missense Variant	0	0	0	rs745842135
X-43572038-G-T	ENST00000542639	p.Trp33Cys	Missense Variant	0	0	0	rs1223099956
X-43572041-A-G	ENST00000542639	p.Thr34Thr	Splice Region Variant	0	0	0	rs771589064
X-43587430-C-T	ENST00000542639	p.Arg39Trp	Missense Variant	0	0	0	rs1390855194
X-43587431-G-A	ENST00000542639	p.Arg39Gln	Missense Variant	44	21896	0.002009	rs58524323
X-43587432-G-A	ENST00000542639	p.Arg39Arg	Synonymous Variant	0	0	0	rs1162175935
X-43587456-C-A	ENST00000542639	p.Ile47Ile	Synonymous Variant	0	0	0	rs752655267
X-43587459-T-C	ENST00000542639	p.Asn48Asn	Synonymous Variant	0	0	0	rs756234483

Showing 1 to 20 of 162 entries

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Post-translational Modifications (PTMs)

Gene Name	ACC ID	PTM Type	Position	Mod-rsd	Site +/-7 Aa	Mw_kd	Site grpID

Catalogue of Somatic Mutations in Cancer (COSMIC)

Substitution - Coding Silent

Substitution - Missense

Substitution - Nonsense

Unknown

Show entries

Gene Name	Transcript ID	Sample name	Primary Site	Primary Histology	Mutation ID	Mutation CDS	Mutation Aa	Mutation Desc.	FATHMM Prediction	FATHMM Score	Mutation Somatic Status	PUBMED PMID	Tumor Origin	Position
MAOA_ENST00000542639	ENST00000542639	PD13760a	breast	carcinoma	81778999	c.13-363G>A	p.?	Unknown	NEUTRAL	.05297	Confirmed somatic variant	PMID: N/A	NS	0
MAOA_ENST00000542639	ENST00000542639	0213_CRUK_PC_0213_T1_DNA	prostate	carcinoma	81779485	c.-327+8314G>C	p.?	Unknown	NEUTRAL	.01842	Confirmed somatic variant	PMID: N/A	primary	0
MAOA_ENST00000542639	ENST00000542639	TCGA-QK-A6VB-01	upper_aerodigestive_tract	carcinoma	81782105	c.*34T>C	p.?	Unknown	NEUTRAL	.01273	Confirmed somatic variant	PMID: N/A	primary	0
MAOA_ENST00000542639	ENST00000542639	TCGA-XF-A9SZ-01	urinary_tract	carcinoma	81780217	c.259G>A	p.V87I	Substitution - Missense	PATHOGENIC	.77731	Confirmed somatic variant	PMID: N/A	primary	87
MAOA_ENST00000542639	ENST00000542639	PD24199a	breast	carcinoma	81779936	c.104+5488C>A	p.?	Unknown	NEUTRAL	.00044	Confirmed somatic variant	PMID: N/A	NS	0
MAOA_ENST00000542639	ENST00000542639	TCGA-BR-4366-01	stomach	carcinoma	81780441	c.1157A>T	p.Y386F	Substitution - Missense	NEUTRAL	.33524	Confirmed somatic variant	PMID: N/A	NS	386
MAOA_ENST00000542639	ENST00000542639	TCGA-B0-5694-01	kidney	carcinoma	81781979	c.-517C>T	p.?	Unknown	NEUTRAL	.04874	Confirmed somatic variant	PMID: N/A	primary	0
MAOA_ENST00000542639	ENST00000542639	0207_CRUK_PC_0207_T1_DNA	prostate	carcinoma	81779998	c.-93-6352A>G	p.?	Unknown	NEUTRAL	.01854	Confirmed somatic variant	PMID: N/A	primary	0
MAOA_ENST00000542639	ENST00000542639	5-VS018-T1	skin	carcinoma	81779346	c.-74G>A	p.?	Unknown	NEUTRAL	.09466	Confirmed somatic variant	PMID: 26950094	NS	0
MAOA_ENST00000542639	ENST00000542639	tumor_4115001	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	81778225	c.286C>T	p.R96W	Substitution - Missense	NEUTRAL	.31619	Confirmed somatic variant	PMID: N/A	primary	96
MAOA_ENST00000542639	ENST00000542639	ICGC_GBM48_tumor	central_nervous_system	primitive_neuroectodermal_tumour-medulloblastoma	81780731	c.654-1359T>A	p.?	Unknown	NEUTRAL	.15046	Confirmed somatic variant	PMID: N/A	primary	0
MAOA_ENST00000542639	ENST00000542639	MEN0054G-P	meninges	meningioma	81781693	c.105-1540C>T	p.?	Unknown	NEUTRAL	.00242	Confirmed somatic variant	PMID: 28713588	NS	0
MAOA_ENST00000542639	ENST00000542639	2017_AML_08_T	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm	81777419	c.-326-9857T>C	p.?	Unknown	NEUTRAL	.00096	Confirmed somatic variant	PMID: N/A	primary	0
MAOA_ENST00000542639	ENST00000542639	T_CCA_SG_15	biliary_tract	carcinoma	81777181	c.-231-1255_-231-1252dup	p.?	Unknown			Confirmed somatic variant	PMID: N/A	primary	0
MAOA_ENST00000542639	ENST00000542639	2017_AML_08_T	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm	81777412	c.-326-9970G>A	p.?	Unknown	NEUTRAL	.00134	Confirmed somatic variant	PMID: N/A	primary	0
MAOA_ENST00000542639	ENST00000542639	5-VS018-T1	skin	carcinoma	81779360	c.1117G>A	p.G373R	Substitution - Missense	PATHOGENIC	.97166	Confirmed somatic variant	PMID: 26950094	NS	373
MAOA_ENST00000542639	ENST00000542639	ML_75_T_01	skin	carcinoma	81777627	c.104+1640A>C	p.?	Unknown	NEUTRAL	.00609	Confirmed somatic variant	PMID: N/A	primary	0
MAOA_ENST00000542639	ENST00000542639	8033523	pancreas	carcinoma	81780780	c.-326-2959T>G	p.?	Unknown	NEUTRAL	.00881	Confirmed somatic variant	PMID: N/A	primary	0
MAOA_ENST00000542639	ENST00000542639	tumor_4139212	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	81778078	c.-94+466T>G	p.?	Unknown	NEUTRAL	.02565	Confirmed somatic variant	PMID: N/A	primary	0
MAOA_ENST00000542639	ENST00000542639	PD11352a	breast	carcinoma	81779021	c.707+1878A>G	p.?	Unknown	NEUTRAL	.00056	Confirmed somatic variant	PMID: N/A	NS	0

Showing 1 to 20 of 288 entries

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dbSNP

Gene ID	Transcript ID	Consequence	Position	HGVSp	Impact

Protein Domains (PFAM)

Pfam Domain	Domain Name	Description	Positions	Clan	Clan Name	Organism
NO RESULT FOUND
NO DOMAINS EXIST

List of the diseases from DisGeNET

Disease Name	Disease Category	DSI*	DPI**
Alcoholic Intoxication, Chronic	Chemically-Induced Disorders ; Mental Disorders ;	0.497	0.655
Antisocial Personality Disorder	Mental Disorders ;	0.497	0.655
Autistic Disorder	Mental Disorders ;	0.497	0.655
Behavior Disorders	Mental Disorders ;	0.497	0.655
Mental disorders	Mental Disorders ;	0.497	0.655
Bipolar Disorder	Mental Disorders ;	0.497	0.655
Depression, Bipolar	Mental Disorders ;	0.497	0.655
Malignant neoplasm of breast	Neoplasms ; Skin and Connective Tissue Diseases ;	0.497	0.655
Cognition Disorders	Mental Disorders ;	0.497	0.655
Mental Depression	Behavior and Behavior Mechanisms ;	0.497	0.655
Depressive disorder	Mental Disorders ;	0.497	0.655
Dyssocial Behavior	Mental Disorders ;	0.497	0.655
Dysthymic Disorder	Mental Disorders ;	0.497	0.655
Endometriosis	Female Urogenital Diseases and Pregnancy Complications ;	0.497	0.655
Hepatic Coma	Digestive System Diseases ; Nervous System Diseases ; Nutritional and Metabolic Diseases ;	0.497	0.655
Hepatic Encephalopathy	Digestive System Diseases ; Nervous System Diseases ; Nutritional and Metabolic Diseases ;	0.497	0.655
Huntington Disease	Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Mental Disorders ;	0.497	0.655
Hypotension	Cardiovascular Diseases ;	0.497	0.655
Myopathy	Musculoskeletal Diseases ; Nervous System Diseases ;	0.497	0.655
Parkinson Disease	Nervous System Diseases ;	0.497	0.655
Pheochromocytoma	Neoplasms ;	0.497	0.655
Prenatal Exposure Delayed Effects	Female Urogenital Diseases and Pregnancy Complications ;	0.497	0.655
Psychotic Disorders	Mental Disorders ;	0.497	0.655
Schizophrenia	Mental Disorders ;	0.497	0.655
Unipolar Depression	Mental Disorders ;	0.497	0.655
Alcohol abuse	Chemically-Induced Disorders ; Mental Disorders ;	0.497	0.655
Fetal Malnutrition	Female Urogenital Diseases and Pregnancy Complications ; Nutritional and Metabolic Diseases ;	0.497	0.655
Endometrioma	Female Urogenital Diseases and Pregnancy Complications ;	0.497	0.655
Severe major depression with psychotic features	N/A	0.497	0.655
Diagnosis, Psychiatric	Mental Disorders ;	0.497	0.655
Huntington Disease, Late Onset	Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Mental Disorders ;	0.497	0.655
Mood Disorders	Mental Disorders ;	0.497	0.655
Cocaine Dependence	Chemically-Induced Disorders ; Mental Disorders ;	0.497	0.655
End Stage Liver Disease	Digestive System Diseases ;	0.497	0.655
Fulminant Hepatic Failure with Cerebral Edema	Digestive System Diseases ; Nervous System Diseases ; Nutritional and Metabolic Diseases ;	0.497	0.655
Hepatic Stupor	Digestive System Diseases ; Nervous System Diseases ; Nutritional and Metabolic Diseases ;	0.497	0.655
Akinetic-Rigid Variant of Huntington Disease	Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Mental Disorders ;	0.497	0.655
Juvenile Huntington Disease	Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Mental Disorders ;	0.497	0.655
Brunner Syndrome	Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ;	0.497	0.655
Mental Retardation, X-Linked	Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ;	0.497	0.655
Pheochromocytoma, Extra-Adrenal	Neoplasms ;	0.497	0.655
Major Depressive Disorder	Mental Disorders ;	0.497	0.655
Fetal Nutrition Disorders	Female Urogenital Diseases and Pregnancy Complications ; Nutritional and Metabolic Diseases ;	0.497	0.655
Depressive Disorder, Treatment-Resistant	Mental Disorders ;	0.497	0.655
clinical depression	N/A	0.497	0.655
Chronic Liver Failure	Digestive System Diseases ;	0.497	0.655
Intellectual Disability	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ;	0.497	0.655
Mental Disorders, Severe	Mental Disorders ;	0.497	0.655
NO RESULT FOUND

Description:	monoamine oxidase [Source:ZFIN;Acc:ZDB-GENE-040329-3]
Synonyms:	zgc:85761, wu:fb68b05, maob, Z-MAO, u:fq38g06, wu:fo76d11, moa
Other ID(s):	ZDB-GENE-040329-3, ENSDARG00000023712
Protein Accession Numbers:	NP_997992
Statistics:	ClinVar(29) gnomAD(162) COSMIC(288)

Classification of Clinicial Significance of ClinVar Data