ConVarT

tubb4a (GeneID: 394927) | Xenopus tropicalis

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)

ClinVar Pathogenicity of Variations

∙ 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.
ENST00000264071 You are here now! ENST00000540257 You are here now! ENST00000594075 ENST00000594276 ENST00000594290 ENST00000595324 ENST00000596291 ENST00000596926 ENST00000597686 ENST00000598006 ENST00000598635 ENST00000600216 ENST00000601152 ENST00000601640 NP_001276052 NP_001276056 NP_001276058 You are here now! NP_001276059 NP_001276060 NP_006078 You are here now!

ClinVar Data

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

gnomAD

Variant ID	Transcript ID	Alteration	Annotation	Allele C.	Allele N.	Allele F.	rsNumber	Flags	Filter

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)

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

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