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

Frameshift Variant

Missense Variant

Splice Region Variant

Stop Retained Variant

Synonymous Variant

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Variant ID	Transcript ID	Alteration	Annotation	Allele C.	Allele N.	Allele F.	rsNumber	Flags	Filter
X-43626713-T-C	ENST00000378069	p.Ter521Ter	Stop Retained Variant	0	0	0	rs758426483
X-43626730-GC-G	ENST00000378069	p.Leu516TyrfsTer3	Frameshift Variant	0	21822	0	rs1173484139	lc_lof	AC0
X-43626761-C-T	ENST00000378069	p.Thr505Thr	Synonymous Variant	0	0	0	rs140052190
X-43626762-G-A	ENST00000378069	p.Thr505Met	Missense Variant	2	21832	0.000092	rs200812794
X-43626763-T-C	ENST00000378069	p.Thr505Ala	Missense Variant	0	0	0	rs780779587
X-43626776-G-A	ENST00000378069	p.Thr500Thr	Synonymous Variant	4	21950	0.000182	rs200388986
X-43626790-T-C	ENST00000378069	p.Ile496Val	Missense Variant	0	0	0	rs1376063354
X-43626796-T-G	ENST00000378069	p.Arg494Arg	Synonymous Variant	0	0	0	rs757552267
X-43626800-C-G	ENST00000378069	p.Leu492Leu	Synonymous Variant	0	0	0	rs1314038250
X-43626803-G-A	ENST00000378069	p.Gly491Gly	Synonymous Variant	1	21858	0.000046	rs779405069
X-43626804-C-T	ENST00000378069	p.Gly491Asp	Missense Variant	0	0	0	rs746227085
X-43626806-T-C	ENST00000378069	p.Pro490Pro	Synonymous Variant	0	0	0	rs772573867
X-43626811-C-T	ENST00000378069	p.Val489Met	Missense Variant	1	21779	0.000046	rs776163971
X-43626812-G-A	ENST00000378069	p.Ser488Ser	Synonymous Variant	0	21823	0	rs763123042		AC0
X-43626815-G-A	ENST00000378069	p.Pro487Pro	Synonymous Variant	440	21806	0.020178	rs6324
X-43626832-A-T	ENST00000378069	p.Leu482Met	Missense Variant	23	21934	0.001049	rs149656736
X-43626833-A-G	ENST00000378069	p.Phe481Phe	Synonymous Variant	10	21924	0.000456	rs146667571
X-43626839-G-T	ENST00000378069	p.Thr479Thr	Synonymous Variant	0	0	0	rs764937254
X-43626845-G-A	ENST00000378069	p.Ile477Ile	Synonymous Variant	2	21930	0.000091	rs140262266
X-43626848-G-A	ENST00000378069	p.Pro476Pro	Synonymous Variant	0	0	0	rs762665688

Showing 1 to 20 of 243 entries

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Post-translational Modifications (PTMs)

Phosphorylation

Ubiquitination

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Gene Name	ACC ID	PTM Type	Position	Mod-rsd	Site +/-7 Aa	Mw_kd	Site grpID
MAOB	P27338	Phosphorylation	131	S131-p	DMGREIPsDAPWkAP	58.76	36839283
MAOB	P27338	Ubiquitination	136	K136-ub	IPsDAPWkAPLAEEW	58.76	21178502
MAOB	P27338	Ubiquitination	209	K209-ub	TNGGQERkFVGGSGQ	58.76	21178512
MAOB	P27338	Ubiquitination	230	K230-ub	DLLGDRVkLERPVIY	58.76	21178508
MAOB	P27338	Phosphorylation	337	Y337-p	DTKPEGNyAAIMGFI	58.76	23124080
MAOB	P27338	Ubiquitination	370	K370-ub	KLCELYAkVLGsLEA	58.76	27196871
MAOB	P27338	Phosphorylation	374	S374-p	LYAkVLGsLEALEPV	58.76	27573273
MAOB	P27338	Phosphorylation	383	Y383-p	EALEPVHyEEKNWCE	58.76	23124083
MAOB	P27338	Phosphorylation	43	T43-p	RDRVGGRtyTLRNQK	58.76	23124077
MAOB	P27338	Phosphorylation	44	Y44-p	DRVGGRtyTLRNQKV	58.76	1917517
MAOB	P27338	Ubiquitination	456	K456-ub	EILHAMGkIPEDEIW	58.76	21178500
MAOB	P27338	Phosphorylation	465	S465-p	PEDEIWQsEPESVDV	58.76	36839229
MAOB	P27338	Phosphorylation	480	T480-p	PAQPITTtFLERHLP	58.76	34501937
MAOB	P27338	Ubiquitination	52	K52-ub	TLRNQKVkyVDLGGS	58.76	21178510
MAOB	P27338	Phosphorylation	53	Y53-p	LRNQKVkyVDLGGSy	58.76	5578075
MAOB	P27338	Phosphorylation	60	Y60-p	yVDLGGSyVGPTQNR	58.76	5578080
MAOB	P27338	Ubiquitination	73	K73-ub	NRILRLAkELGLETY	58.76	21178506
MAOB	P27338	Ubiquitination	81	K81-ub	ELGLETYkVNEVERL	58.76	21178504
MAOB	P27338	Ubiquitination	93	K93-ub	ERLIHHVkGKSYPFR	58.76	964525800

Showing 1 to 19 of 19 entries

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Catalogue of Somatic Mutations in Cancer (COSMIC)

Deletion - Frameshift

Deletion - In Frame

Insertion - Frameshift

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
MAOB	ENST00000378069	RK234_C01	liver	carcinoma	40233439	c.280-1953A>G	p.?	Unknown	NEUTRAL	.01785	Confirmed somatic variant	PMID: N/A	primary	0
MAOB	ENST00000378069	PD6466b	NS	NS	40233968	c.47-12286G>T	p.?	Unknown	NEUTRAL	.00008	Confirmed somatic variant	PMID: N/A	primary	0
MAOB	ENST00000378069	S01020_1	lung	carcinoma	40236131	c.415del	p.A140Qfs*7	Deletion - Frameshift			Confirmed somatic variant	PMID: 26168399	primary	140
MAOB	ENST00000378069	3N48-VS-3T48	oesophagus	carcinoma	40232615	c.634G>C	p.G212R	Substitution - Missense	PATHOGENIC	.98984	Confirmed somatic variant	PMID: 25839328	NS	212
MAOB	ENST00000378069	5-VS054-T1	skin	carcinoma	40236488	c.855G>A	p.M285I	Substitution - Missense	NEUTRAL	.18587	Confirmed somatic variant	PMID: 26950094	NS	285
MAOB	ENST00000378069	TCGA-HE-7130-01	kidney	carcinoma	40232993	c.637G>A	p.G213R	Substitution - Missense	PATHOGENIC	.98707	Confirmed somatic variant	PMID: N/A	NS	213
MAOB	ENST00000378069	tumor_4124432	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	40236998	c.46+7240T>A	p.?	Unknown	NEUTRAL	.04457	Confirmed somatic variant	PMID: N/A	primary	0
MAOB	ENST00000378069	6	skin	carcinoma	40232592	c.753C>T	p.N251=	Substitution - coding silent	PATHOGENIC	.74467	Confirmed somatic variant	PMID: 27592799	primary	251
MAOB	ENST00000378069	RK144_C01	liver	carcinoma	40234628	c.279+2303C>T	p.?	Unknown	NEUTRAL	.00868	Confirmed somatic variant	PMID: N/A	NS	0
MAOB	ENST00000378069	ICGC_GBM48_tumor	central_nervous_system	primitive_neuroectodermal_tumour-medulloblastoma	40235654	c.47-10591G>T	p.?	Unknown	NEUTRAL	.00355	Confirmed somatic variant	PMID: N/A	primary	0
MAOB	ENST00000378069	tumor_4124432	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	40236992	c.46+11822C>G	p.?	Unknown	NEUTRAL	.04948	Confirmed somatic variant	PMID: N/A	primary	0
MAOB	ENST00000378069	PD9467a	breast	carcinoma	40233037	c.280-13159T>C	p.?	Unknown	NEUTRAL	.01035	Confirmed somatic variant	PMID: N/A	NS	0
MAOB	ENST00000378069	ML_75_T_01	skin	carcinoma	40232547	c.280-7298T>A	p.?	Unknown	NEUTRAL	.00546	Confirmed somatic variant	PMID: N/A	primary	0
MAOB	ENST00000378069	5-VS056-T1	skin	carcinoma	40235979	c.1381G>A	p.E461K	Substitution - Missense	PATHOGENIC	.92762	Confirmed somatic variant	PMID: 26950094	NS	461
MAOB	ENST00000378069	CHC1185T	liver	carcinoma	40233046	c.723A>G	p.T241=	Substitution - coding silent	NEUTRAL	.06248	Confirmed somatic variant	PMID: N/A	NS	241
MAOB	ENST00000378069	ML_75_T_01	skin	carcinoma	40232544	c.1138-1206A>G	p.?	Unknown	NEUTRAL	.02216	Confirmed somatic variant	PMID: N/A	primary	0
MAOB	ENST00000378069	PD14468a	breast	carcinoma	40235402	c.46+19179T>G	p.?	Unknown	NEUTRAL	.06288	Confirmed somatic variant	PMID: N/A	primary	0
MAOB	ENST00000378069	YUSCO	skin	malignant_melanoma	40234794	c.727G>A	p.E243K	Substitution - Missense	PATHOGENIC	.961	Confirmed somatic variant	PMID: 22842228	NS	243
MAOB	ENST00000378069	RK095_C01	liver	carcinoma	40236015	c.279+304G>T	p.?	Unknown	NEUTRAL	.00774	Confirmed somatic variant	PMID: N/A	NS	0
MAOB	ENST00000378069	274T	liver	other	40235771	c.279+2316A>G	p.?	Unknown	NEUTRAL	.10222	Confirmed somatic variant	PMID: N/A	primary	0

Showing 1 to 20 of 296 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
PF01593	Amino_oxidase	Flavin containing amine oxidoreductase	14-451	CL0063	NADP_Rossmann	Homo sapiens

List of the diseases from DisGeNET

Disease Name	Disease Category	DSI*	DPI**
Alcoholic Intoxication, Chronic	Chemically-Induced Disorders ; Mental Disorders ;	0.575	0.724
Alzheimer's Disease	Nervous System Diseases ; Mental Disorders ;	0.575	0.724
Anemia, Megaloblastic	Hemic and Lymphatic Diseases ;	0.575	0.724
Autistic Disorder	Mental Disorders ;	0.575	0.724
Bipolar Disorder	Mental Disorders ;	0.575	0.724
Malignant tumor of colon	Neoplasms ; Digestive System Diseases ;	0.575	0.724
Colonic Neoplasms	Neoplasms ; Digestive System Diseases ;	0.575	0.724
Presenile dementia	Nervous System Diseases ; Mental Disorders ;	0.575	0.724
Mental Depression	Behavior and Behavior Mechanisms ;	0.575	0.724
Depressive disorder	Mental Disorders ;	0.575	0.724
Endometriosis	Female Urogenital Diseases and Pregnancy Complications ;	0.575	0.724
Hepatic Coma	Digestive System Diseases ; Nervous System Diseases ; Nutritional and Metabolic Diseases ;	0.575	0.724
Hepatic Encephalopathy	Digestive System Diseases ; Nervous System Diseases ; Nutritional and Metabolic Diseases ;	0.575	0.724
Huntington Disease	Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Mental Disorders ;	0.575	0.724
Hypotension	Cardiovascular Diseases ;	0.575	0.724
Parkinson Disease	Nervous System Diseases ;	0.575	0.724
Pheochromocytoma	Neoplasms ;	0.575	0.724
Schizophrenia	Mental Disorders ;	0.575	0.724
Unipolar Depression	Mental Disorders ;	0.575	0.724
Endometrioma	Female Urogenital Diseases and Pregnancy Complications ;	0.575	0.724
Familial Alzheimer Disease (FAD)	Nervous System Diseases ; Mental Disorders ;	0.575	0.724
Senile Plaques	Pathological Conditions, Signs and Symptoms ;	0.575	0.724
Huntington Disease, Late Onset	Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Mental Disorders ;	0.575	0.724
Alzheimer Disease, Late Onset	Nervous System Diseases ; Mental Disorders ;	0.575	0.724
Mood Disorders	Mental Disorders ;	0.575	0.724
Acute Confusional Senile Dementia	Nervous System Diseases ; Mental Disorders ;	0.575	0.724
Alzheimer's Disease, Focal Onset	Nervous System Diseases ; Mental Disorders ;	0.575	0.724
Alzheimer Disease, Early Onset	Nervous System Diseases ; Mental Disorders ;	0.575	0.724
Fulminant Hepatic Failure with Cerebral Edema	Digestive System Diseases ; Nervous System Diseases ; Nutritional and Metabolic Diseases ;	0.575	0.724
Hepatic Stupor	Digestive System Diseases ; Nervous System Diseases ; Nutritional and Metabolic Diseases ;	0.575	0.724
Akinetic-Rigid Variant of Huntington Disease	Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Mental Disorders ;	0.575	0.724
Juvenile Huntington Disease	Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Mental Disorders ;	0.575	0.724
Pheochromocytoma, Extra-Adrenal	Neoplasms ;	0.575	0.724
Major Depressive Disorder	Mental Disorders ;	0.575	0.724
Plaque, Amyloid	Pathological Conditions, Signs and Symptoms ;	0.575	0.724
Intellectual Disability	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ;	0.575	0.724
NO RESULT FOUND

Description:	monoamine oxidase B [Source:HGNC Symbol;Acc:HGNC:6834]
Synonyms:
Other ID(s):	ENSG00000069535, HGNC:6834
Protein Accession Numbers:	ENST00000536181, NP_000889, ENST00000378069, ENST00000538942
Statistics:	ClinVar(6) gnomAD(243) COSMIC(296) PTM(19)

Classification of Clinicial Significance of ClinVar Data