ConVarT

TUBB (GeneID: 574113) | Macaca mulatta

Description:	tubulin beta class I [Source:NCBI gene;Acc:574113]
Synonyms:	TUBB2A, TUBB5, TUBB2B
Other ID(s):	ENSMMUG00000030028
Protein Accession Numbers:	XP_014991324, NP_001027985
Statistics:	ClinVar(66) gnomAD(238) COSMIC(191)

ClinVar Pathogenicity of Variations

Benign

Conflicting

Pathogenic

VUS

∙ Please click the name of species for the protein accession number used in the alignment.
∙ A p letter used as a pointer to positions of post translational modifications in human.
∙ Protein domains illustrated above belong to Homo sapiens (Human).
∙ ClinVar stacked bar chart represents whole protein isoforms of the gene. Please, check the other protein isoforms of the gene below.
∙ If more than one transcripts below are active (with blue background color), it means all the active transcripts have the same sequence.
ENST00000327892 ENST00000330914 You are here now! ENST00000383564 ENST00000396384 You are here now! ENST00000396389 ENST00000400530 You are here now! ENST00000400531 You are here now! ENST00000400534 ENST00000412136 ENST00000413547 You are here now! ENST00000419551 ENST00000419792 ENST00000420400 ENST00000420618 You are here now! ENST00000421473 ENST00000422650 ENST00000422674 ENST00000424734 ENST00000425102 You are here now! ENST00000425136 ENST00000426754 ENST00000427480 You are here now! ENST00000432462 ENST00000435534 ENST00000435546 You are here now!

ClinVar Data

Show entries

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

gnomAD

Inframe Deletion

Missense Variant

Stop Gained

Stop Retained Variant

Synonymous Variant

Show entries

Variant ID	Transcript ID	Alteration	Annotation	Allele C.	Allele N.	Allele F.	rsNumber
6-30690768-T-C	ENST00000330914	p.Pro8Pro	Synonymous Variant	0	0	0	rs1275004718
6-30690768-T-C	ENST00000396384	p.Pro8Pro	Synonymous Variant	0	0	0	rs1275004718
6-30690792-C-T	ENST00000330914	p.Asp16Asp	Synonymous Variant	0	0	0	rs770684802
6-30690792-C-T	ENST00000396384	p.Asp16Asp	Synonymous Variant	0	0	0	rs770684802
6-30690801-A-G	ENST00000330914	p.Val19Val	Synonymous Variant	1	31392	0.000032	rs1246063322
6-30690801-A-G	ENST00000396384	p.Val19Val	Synonymous Variant	1	31392	0.000032	rs1246063322
6-30691123-C-A	ENST00000330914	p.Ser23Tyr	Missense Variant	0	0	0	rs1188685125
6-30691123-C-A	ENST00000396384	p.Ser23Tyr	Missense Variant	0	0	0	rs1188685125
6-30691130-A-T	ENST00000330914	p.Ala25Ala	Synonymous Variant	0	0	0	rs768763430
6-30691130-A-T	ENST00000396384	p.Ala25Ala	Synonymous Variant	0	0	0	rs768763430
6-30691139-C-T	ENST00000330914	p.Asn28Asn	Synonymous Variant	0	0	0	rs544568671
6-30691139-C-T	ENST00000396384	p.Asn28Asn	Synonymous Variant	0	0	0	rs544568671
6-30691154-C-T	ENST00000330914	p.His33His	Synonymous Variant	0	0	0	rs748352197
6-30691154-C-T	ENST00000396384	p.His33His	Synonymous Variant	0	0	0	rs748352197
6-30691157-C-T	ENST00000330914	p.Tyr34Tyr	Synonymous Variant	1	31410	0.000032	rs772236124
6-30691157-C-T	ENST00000396384	p.Tyr34Tyr	Synonymous Variant	1	31410	0.000032	rs772236124
6-30691166-C-T	ENST00000330914	p.Gly37Gly	Synonymous Variant	0	0	0	rs139202417
6-30691166-C-T	ENST00000396384	p.Gly37Gly	Synonymous Variant	0	0	0	rs139202417
6-30691169-C-T	ENST00000330914	p.Ala38Ala	Synonymous Variant	0	0	0	rs745597672
6-30691169-C-T	ENST00000396384	p.Ala38Ala	Synonymous Variant	0	0	0	rs745597672

Showing 1 to 20 of 238 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
TUBB_ENST00000330914	ENST00000330914	2834130	skin	malignant_melanoma	29589938	c.-66T>C	p.?	Unknown	PATHOGENIC	.9436	Variant of unknown origin	PMID: 28296713	primary	0
TUBB_ENST00000330914	ENST00000330914	2834130	skin	malignant_melanoma	29590046	c.1055A>G	p.Q352R	Substitution - Missense	PATHOGENIC	.94249	Variant of unknown origin	PMID: 28296713	primary	352
TUBB_ENST00000330914	ENST00000330914	2834130	skin	malignant_melanoma	29590023	c.574C>T	p.H192Y	Substitution - Missense	PATHOGENIC	.95224	Variant of unknown origin	PMID: 28296713	primary	192
TUBB_ENST00000330914	ENST00000330914	TCGA-CQ-6225-01	upper_aerodigestive_tract	carcinoma	29591203	c.*42C>T	p.?	Unknown	NEUTRAL	.0506	Confirmed somatic variant	PMID: N/A	NS	0
TUBB_ENST00000330914	ENST00000330914	2834130	skin	malignant_melanoma	29590034	c.1050T>A	p.Y350*	Substitution - Nonsense	PATHOGENIC	.74123	Variant of unknown origin	PMID: 28296713	primary	350
TUBB_ENST00000330914	ENST00000330914	2834130	skin	malignant_melanoma	29590039	c.1051C>G	p.Q351E	Substitution - Missense	PATHOGENIC	.94827	Variant of unknown origin	PMID: 28296713	primary	351
TUBB_ENST00000330914	ENST00000330914	2834130	skin	malignant_melanoma	29590057	c.1057T>A	p.Y353N	Substitution - Missense	PATHOGENIC	.93854	Variant of unknown origin	PMID: 28296713	primary	353
TUBB_ENST00000330914	ENST00000330914	2834130	skin	malignant_melanoma	29590008	c.571C>A	p.L191I	Substitution - Missense	PATHOGENIC	.94133	Variant of unknown origin	PMID: 28296713	primary	191
TUBB_ENST00000330914	ENST00000330914	2834130	skin	malignant_melanoma	29590028	c.614G>A	p.G205E	Substitution - Missense	PATHOGENIC	.98058	Reported in another cancer sample as somatic	PMID: 28296713	primary	205
TUBB_ENST00000330914	ENST00000330914	RK079_C01	liver	carcinoma	29591801	c.*183G>A	p.?	Unknown		.63884	Variant of unknown origin	PMID: N/A	primary	0
TUBB_ENST00000330914	ENST00000330914	869586	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm	29590829	c.*32T>C	p.?	Unknown	NEUTRAL	.06863	Confirmed somatic variant	PMID: 22237025	primary	0
TUBB_ENST00000330914	ENST00000330914	LP6007544-DNA_A01	oesophagus	carcinoma	29590842	c.-160+306G>A	p.?	Unknown	NEUTRAL	.00207	Confirmed somatic variant	PMID: N/A	primary	0
TUBB_ENST00000330914	ENST00000330914	HUB-02-B2-020	large_intestine	carcinoma	29591773	c.-96G>A	p.?	Unknown	PATHOGENIC	.91553	Confirmed somatic variant	PMID: N/A	NS	0
TUBB_ENST00000330914	ENST00000330914	TCGA-CM-5861-01	large_intestine	carcinoma	29590616	c.799A>G	p.S267G	Substitution - Missense	PATHOGENIC	.89366	Confirmed somatic variant	PMID: N/A	NS	267
TUBB_ENST00000330914	ENST00000330914	DCG_04	central_nervous_system	glioma	29590224	c.759G>C	p.E253D	Substitution - Missense	PATHOGENIC	.91724	Confirmed somatic variant	PMID: 28852847	NS	253
TUBB_ENST00000330914	ENST00000330914	RK050_C01	liver	carcinoma	29590087	c.-159-190G>A	p.?	Unknown	NEUTRAL	.01127	Reported in another cancer sample as somatic	PMID: N/A	primary	0
TUBB_ENST00000330914	ENST00000330914	TCGA-77-A5G6-01	lung	carcinoma	29590986	c.285C>T	p.F95=	Substitution - coding silent	PATHOGENIC	.87031	Confirmed somatic variant	PMID: N/A	primary	95
TUBB_ENST00000330914	ENST00000330914	TCGA-B0-5098-01	kidney	carcinoma	29591475	c.426T>A	p.T142=	Substitution - coding silent	NEUTRAL	.21833	Variant of unknown origin	PMID: N/A	primary	142
TUBB_ENST00000330914	ENST00000330914	RC-12	kidney	carcinoma	29589870	c.1105G>T	p.E369*	Substitution - Nonsense	PATHOGENIC	.95095	Variant of unknown origin	PMID: 22385958	NS	369
TUBB_ENST00000330914	ENST00000330914	TCGA-AA-3715-01	large_intestine	carcinoma	29590061	c.300A>G	p.S100=	Substitution - coding silent	NEUTRAL	.13239	Confirmed somatic variant	PMID: 22810696	NS	100

Showing 1 to 20 of 191 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
PF00091	Tubulin	Tubulin/FtsZ family, GTPase domain	1-140	CL0566	Tubulin	Homo sapiens
PF03953	Tubulin_C	Tubulin C-terminal domain	189-311	CL0442	Tubulin_C	Homo sapiens

List of the diseases from DisGeNET

Disease Name	Disease Category	DSI*	DPI**
Michelin tire baby syndrome	Neoplasms ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Skin and Connective Tissue Diseases ;	0.611	0.655
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6	N/A	0.611	0.655
NO RESULT FOUND

Classification of Clinicial Significance of ClinVar Data