TUBA1B

tubulin alpha 1b, the group of Tubulins

Basic information

Region (hg38): 12:49127782-49131397

Links

ENSG00000123416 ∙ NCBI:10376 ∙ OMIM:602530 ∙ HGNC:18809 ∙ Uniprot:P68363 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the TUBA1B gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TUBA1B gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous					3	3
missense			2			2
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding					1	1
Total	0	0	2	0	4

Variants in TUBA1B

This is a list of pathogenic ClinVar variants found in the TUBA1B region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
12-49128628-C-T		TUBA1B-associated neurodevelopmental disorder	Uncertain significance (Apr 13, 2023)
12-49128760-T-C		Congenital fibrosis of extraocular muscles	Uncertain significance (Mar 12, 2024)
12-49128795-T-C			Benign (Mar 27, 2020)
12-49128822-C-T			Benign (Mar 27, 2020)
12-49129702-G-A			Benign (Jun 28, 2018)
12-49129740-GAT-G			Benign (Apr 19, 2019)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TUBA1B	protein_coding	protein_coding	ENST00000336023	4	3616

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.968	0.0323	125746	0	2	125748	0.00000795

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	5.41	16	263	0.0608	0.0000152	2970
Missense in Polyphen		4	124.35	0.032168		1437
Synonymous	-1.80	119	96.5	1.23	0.00000523	905
Loss of Function	3.36	1	15.0	0.0664	8.31e-7	175

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00000879	0.00000879
Middle Eastern	0.00	0.00
South Asian	0.0000327	0.0000327
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Tubulin is the major constituent of microtubules. It binds two moles of GTP, one at an exchangeable site on the beta chain and one at a non-exchangeable site on the alpha chain.
• Pathway: Tight junction - Homo sapiens (human);Phagosome - Homo sapiens (human);Gap junction - Homo sapiens (human);Pathogenic Escherichia coli infection - Homo sapiens (human);Apoptosis - Homo sapiens (human);Docetaxel Action Pathway;Paclitaxel Action Pathway;Vincristine Action Pathway;Vinblastine Action Pathway;Vinorelbine Action Pathway;Vindesine Action Pathway;Pathogenic Escherichia coli infection;Allograft Rejection;Parkin-Ubiquitin Proteasomal System pathway;Post-translational protein modification;Metabolism of proteins;Chaperonin-mediated protein folding;Formation of tubulin folding intermediates by CCT/TriC;Carboxyterminal post-translational modifications of tubulin;Signaling events mediated by HDAC Class II;Protein folding;Cooperation of Prefoldin and TriC/CCT in actin and tubulin folding;Post-chaperonin tubulin folding pathway;Signaling events mediated by HDAC Class III;Signaling events mediated by PRL (Consensus)

Recessive Scores

• pRec: 0.212

Intolerance Scores

• loftool: 0.155
• rvis_EVS: -0.23
• rvis_percentile_EVS: 36.86

Haploinsufficiency Scores

• pHI: 0.799
• hipred: Y
• hipred_score: 0.711
• ghis: 0.664

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: E
• gene_indispensability_pred: E
• gene_indispensability_score: 0.835

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Low	Low	Low
Primary Immunodeficiency	Low	Low	Low
Cancer	Low	Low	Low

Mouse Genome Informatics

• Gene name: Tuba1b

Gene ontology

• Biological process: microtubule cytoskeleton organization;mitotic cell cycle;microtubule-based process;cytoskeleton-dependent intracellular transport;cell division;cellular response to interleukin-4
• Cellular component: cytoplasm;microtubule;cytoplasmic microtubule;microtubule cytoskeleton;myelin sheath;membrane raft
• Molecular function: double-stranded RNA binding;GTPase activity;structural molecule activity;structural constituent of cytoskeleton;protein binding;GTP binding;ubiquitin protein ligase binding