TTLL8

tubulin tyrosine ligase like 8, the group of Tubulin tyrosine ligase family

Basic information

Region (hg38): 22:50018575-50058298

Links

ENSG00000138892 ∙ NCBI:164714 ∙ OMIM:619193 ∙ HGNC:34000 ∙ Uniprot:A6PVC2 ∙ 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 TTLL8 gene.

• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TTLL8 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				1		1
missense						0
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	0	1	0

Variants in TTLL8

This is a list of pathogenic ClinVar variants found in the TTLL8 region.

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

Position	Type	Phenotype	Significance	ClinVar
22-50034409-G-A			Likely benign (Mar 01, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TTLL8	protein_coding	protein_coding	ENST00000433387	14	41813

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
7.22e-15	0.370	124123	6	651	124780	0.00264

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.352	451	473	0.954	0.0000294	5453
Missense in Polyphen		154	162.7	0.94652		1812
Synonymous	0.280	209	214	0.976	0.0000155	1676
Loss of Function	1.42	27	36.2	0.746	0.00000171	426

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00540	0.00501
Ashkenazi Jewish	0.000733	0.000696
East Asian	0.000571	0.000556
Finnish	0.000233	0.000232
European (Non-Finnish)	0.000229	0.000221
Middle Eastern	0.000571	0.000556
South Asian	0.0179	0.0168
Other	0.00102	0.000989

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Monoglycylase which modifies both tubulin and non- tubulin proteins, generating side chains of glycine on the gamma- carboxyl groups of specific glutamate residues of target proteins. Monoglycylates tubulin, with a preference for alpha-tubulin toward beta-tubulin. Has the ability to modify non-tubulin proteins such as ANP32A, ANP32B, SET and NCL. Involved in the side-chain initiation step of the glycylation reaction by adding a single glycine chain to generate monoglycine side chains. Not involved in elongation step of the polyglycylation reaction (By similarity). {ECO:0000250}.
• Pathway: Post-translational protein modification;Metabolism of proteins;Carboxyterminal post-translational modifications of tubulin (Consensus)

Recessive Scores

• pRec: 0.0958

Haploinsufficiency Scores

• pHI: 0.728

Essentials

• essential_gene_CRISPR2: S
• gene_indispensability_pred: N
• gene_indispensability_score: 0.169

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	High
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Ttll8

Gene ontology

• Biological process: protein polyglycylation
• Cellular component: cytosol;microtubule;cilium;axoneme;microtubule cytoskeleton
• Molecular function: ATP binding;protein-glycine ligase activity;protein-glycine ligase activity, initiating