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

Inframe Deletion

Inframe Insertion

Missense Variant

Start Lost

Stop Gained

Synonymous Variant

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Variant ID	Transcript ID	Alteration	Annotation	Allele C.	Allele N.	Allele F.	rsNumber
19-6495178-G-A	ENST00000264071	p.Ala444Ala	Synonymous Variant	1	31302	0.000032	rs758734177
19-6495178-G-A	ENST00000540257	p.Ala444Ala	Synonymous Variant	1	31302	0.000032	rs758734177
19-6495179-G-A	ENST00000264071	p.Ala444Val	Missense Variant	0	0	0	rs371914924
19-6495179-G-A	ENST00000540257	p.Ala444Val	Missense Variant	0	0	0	rs371914924
19-6495181-C-T	ENST00000264071	p.Val443Val	Synonymous Variant	0	0	0	rs751733505
19-6495181-C-T	ENST00000540257	p.Val443Val	Synonymous Variant	0	0	0	rs751733505
19-6495182-A-ACCTCCTCCTCCG	ENST00000264071	p.Ala439_Glu442dup	Inframe Insertion	0	0	0	rs1313659984
19-6495182-A-ACCTCCTCCTCCG	ENST00000540257	p.Ala439_Glu442dup	Inframe Insertion	0	0	0	rs1313659984
19-6495182-ACCTCCTCCTCCG-A	ENST00000264071	p.Ala439_Glu442del	Inframe Deletion	1	31254	0.000032	rs1313659984
19-6495182-ACCTCCTCCTCCG-A	ENST00000540257	p.Ala439_Glu442del	Inframe Deletion	1	31254	0.000032	rs1313659984
19-6495183-C-T	ENST00000264071	p.Val443Met	Missense Variant	0	0	0	rs755048382
19-6495183-C-T	ENST00000540257	p.Val443Met	Missense Variant	0	0	0	rs755048382
19-6495184-C-T	ENST00000264071	p.Glu442Glu	Synonymous Variant	0	0	0	rs558843681
19-6495184-C-T	ENST00000540257	p.Glu442Glu	Synonymous Variant	0	0	0	rs558843681
19-6495185-TCCTCCTCCG-T	ENST00000264071	p.Ala439_Glu441del	Inframe Deletion	1	31290	0.000032	rs1440397888
19-6495185-TCCTCCTCCG-T	ENST00000540257	p.Ala439_Glu441del	Inframe Deletion	1	31290	0.000032	rs1440397888
19-6495187-C-T	ENST00000264071	p.Glu441Glu	Synonymous Variant	0	0	0	rs1262997171
19-6495187-C-T	ENST00000540257	p.Glu441Glu	Synonymous Variant	0	0	0	rs1262997171
19-6495193-C-T	ENST00000264071	p.Ala439Ala	Synonymous Variant	0	0	0	rs201070507
19-6495193-C-T	ENST00000540257	p.Ala439Ala	Synonymous Variant	0	0	0	rs201070507

Showing 1 to 20 of 586 entries

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Post-translational Modifications (PTMs)

Acetylation

Methylation

Phosphorylation

Sumoylation

Ubiquitination

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Gene Name	ACC ID	PTM Type	Position	Mod-rsd	Site +/-7 Aa	Mw_kd	Site grpID
TUBB4A	P04350	Ubiquitination	103	K103-ub	GAGNNWAkGHYTEGA	49.59	15399563
TUBB4A	P04350	Acetylation	103	K103-ac	GAGNNWAkGHYTEGA	49.59	475901
TUBB4A	P04350	Sumoylation	103	K103-sm	GAGNNWAkGHYTEGA	49.59	610815160
TUBB4A	P04350	Ubiquitination	122	K122-ub	AVLDVVRkEAEsCDC	49.59	486618
TUBB4A	P04350	Phosphorylation	126	S126-p	VVRkEAEsCDCLQGF	49.59	4775686
TUBB4A	P04350	Phosphorylation	136	T136-p	CLQGFQLtHsLGGGt	49.59	2025345
TUBB4A	P04350	Phosphorylation	138	S138-p	QGFQLtHsLGGGtGs	49.59	2025349
TUBB4A	P04350	Phosphorylation	143	T143-p	tHsLGGGtGsGMGtL	49.59	2025353
TUBB4A	P04350	Phosphorylation	145	S145-p	sLGGGtGsGMGtLLI	49.59	2025357
TUBB4A	P04350	Phosphorylation	149	T149-p	GtGsGMGtLLIskIR	49.59	23070023
TUBB4A	P04350	Phosphorylation	153	S153-p	GMGtLLIskIREEFP	49.59	56652338
TUBB4A	P04350	Ubiquitination	154	K154-ub	MGtLLIskIREEFPD	49.59	3946037
TUBB4A	P04350	Phosphorylation	166	T166-p	FPDRIMNtFsVVPsP	49.59	31889872
TUBB4A	P04350	Phosphorylation	168	S168-p	DRIMNtFsVVPsPkV	49.59	15723505
TUBB4A	P04350	Phosphorylation	172	S172-p	NtFsVVPsPkVSDTV	49.59	12720009
TUBB4A	P04350	Ubiquitination	174	K174-ub	FsVVPsPkVSDTVVE	49.59	15399566
TUBB4A	P04350	Phosphorylation	183	Y183-p	SDTVVEPyNATLSVH	49.59	15406783
TUBB4A	P04350	Ubiquitination	19	K19-ub	CGNQIGAkFWEVIsD	49.59	964552962
TUBB4A	P04350	Acetylation	19	K19-ac	CGNQIGAkFWEVIsD	49.59	3840583
TUBB4A	P04350	Methylation	19	K19-m1	CGNQIGAkFWEVIsD	49.59	58123406

Showing 1 to 20 of 76 entries

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Catalogue of Somatic Mutations in Cancer (COSMIC)

Deletion - Frameshift

Substitution - Coding Silent

Substitution - Missense

Substitution - Nonsense

Unknown

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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
TUBB4A	ENST00000264071	CHG-12-13407T	liver	other	22584490	c.1212C>T	p.D404=	Substitution - coding silent		.55846	Confirmed somatic variant	PMID: N/A	primary	404
TUBB4A	ENST00000264071	J32_T	lung	carcinoma	22586810	c.278-2511G>A	p.?	Unknown	NEUTRAL	.02324	Confirmed somatic variant	PMID: N/A	NS	0
TUBB4A	ENST00000264071	5-VS054-T1	skin	carcinoma	22587041	c.1063G>A	p.D355N	Substitution - Missense	PATHOGENIC	.96331	Confirmed somatic variant	PMID: 26950094	NS	355
TUBB4A	ENST00000264071	2014_Lung_sq_100_T	lung	carcinoma	22585635	c.1323G>A	p.E441=	Substitution - coding silent	PATHOGENIC	.89719	Confirmed somatic variant	PMID: N/A	primary	441
TUBB4A	ENST00000264071	CHG-12-13407T	liver	other	22584475	c.1221G>A	p.E407=	Substitution - coding silent	PATHOGENIC	.92291	Confirmed somatic variant	PMID: N/A	primary	407
TUBB4A	ENST00000264071	8031644	pancreas	carcinoma	22586243	c.505G>A	p.V169M	Substitution - Missense	PATHOGENIC	.99076	Confirmed somatic variant	PMID: N/A	primary	169
TUBB4A	ENST00000264071	5-VS030-T1	skin	carcinoma	22587905	c.973G>A	p.E325K	Substitution - Missense	PATHOGENIC	.94756	Confirmed somatic variant	PMID: 26950094	NS	325
TUBB4A	ENST00000264071	W34T	thyroid	carcinoma	22584245	c.1219G>T	p.E407*	Substitution - Nonsense	PATHOGENIC	.95777	Confirmed somatic variant	PMID: N/A	primary	407
TUBB4A	ENST00000264071	TCGA-HU-A4H4-01	stomach	carcinoma	22585153	c.807C>T	p.G269=	Substitution - coding silent	PATHOGENIC	.80894	Confirmed somatic variant	PMID: N/A	NS	269
TUBB4A	ENST00000264071	2857126	urinary_tract	carcinoma	22586885	c.565G>A	p.V189M	Substitution - Missense	PATHOGENIC	.93311	Confirmed somatic variant	PMID: 25096233	NS	189
TUBB4A	ENST00000264071	CHG-12-01579T	liver	other	22584459	c.1227C>T	p.T409=	Substitution - coding silent	NEUTRAL	.08442	Confirmed somatic variant	PMID: N/A	primary	409
TUBB4A	ENST00000264071	CHG-12-01579T	liver	other	22584399	c.774T>C	p.V258=	Substitution - coding silent	NEUTRAL	.36143	Confirmed somatic variant	PMID: N/A	primary	258
TUBB4A	ENST00000264071	15145	lung	carcinoma	22585563	c.88A>T	p.I30F	Substitution - Missense	PATHOGENIC	.98581	Confirmed somatic variant	PMID: 22510280	primary	30
TUBB4A	ENST00000264071	TCGA-43-2576-01	lung	carcinoma	22584387	c.548A>G	p.Y183C	Substitution - Missense	PATHOGENIC	.9614	Confirmed somatic variant	PMID: N/A	NS	183
TUBB4A	ENST00000264071	TCGA-BR-7851-01	stomach	carcinoma	22587666	c.855G>A	p.T285=	Substitution - coding silent	NEUTRAL	.05641	Confirmed somatic variant	PMID: N/A	NS	285
TUBB4A	ENST00000264071	TCGA-V1-A8WN-01	prostate	carcinoma	22585111	c.469G>A	p.E157K	Substitution - Missense	PATHOGENIC	.9807	Confirmed somatic variant	PMID: N/A	primary	157
TUBB4A	ENST00000264071	EOPC-197_tumor_01	prostate	carcinoma	22586364	c.278-1492A>T	p.?	Unknown	NEUTRAL	.00078	Confirmed somatic variant	PMID: N/A	primary	0
TUBB4A	ENST00000264071	EOPC-197_tumor_01	prostate	carcinoma	22586368	c.278-1500A>G	p.?	Unknown	NEUTRAL	.00051	Confirmed somatic variant	PMID: N/A	primary	0
TUBB4A	ENST00000264071	EOPC-197_tumor_01	prostate	carcinoma	22586641	c.278-1529T>C	p.?	Unknown	NEUTRAL	.00031	Confirmed somatic variant	PMID: N/A	primary	0
TUBB4A	ENST00000264071	TCGA-D1-A1NS-01	endometrium	carcinoma	22585502	c.1062C>T	p.C354=	Substitution - coding silent		.67536	Confirmed somatic variant	PMID: N/A	NS	354

Showing 1 to 20 of 449 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	3-212	CL0566	Tubulin	Homo sapiens
PF03953	Tubulin_C	Tubulin C-terminal domain	261-383	CL0442	Tubulin_C	Homo sapiens

List of the diseases from DisGeNET

Disease Name	Disease Category	DSI*	DPI**
Ataxias, Hereditary	Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ;	0.707	0.276
Leukodystrophy	N/A	0.707	0.276
Parkinson Disease	Nervous System Diseases ;	0.707	0.276
Spastic Paraplegia, Hereditary	Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ;	0.707	0.276
Epileptic encephalopathy	N/A	0.707	0.276
DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT (disorder)	Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ;	0.707	0.276
Whispering dysphonia, hereditary	Respiratory Tract Diseases ; Otorhinolaryngologic Diseases ; Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Pathological Conditions, Signs and Symptoms ;	0.707	0.276
Leukodystrophy, Hypomyelinating, 6	Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Nutritional and Metabolic Diseases ;	0.707	0.276
Intellectual Disability	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ;	0.707	0.276
NO RESULT FOUND

Description:	tubulin beta 4A class IVa [Source:Xenbase;Acc:XB-GENE-947407]
Synonyms:	tubb5, beta-5, tubb4, tubb2a
Other ID(s):	XB-GENE-947407, ENSXETG00000021860
Protein Accession Numbers:	NP_001032345
Statistics:	ClinVar(220) gnomAD(586) COSMIC(449) PTM(76)

Classification of Clinicial Significance of ClinVar Data