TTPAL

alpha tocopherol transfer protein like

Basic information

Region (hg38): 20:44475874-44494603

Previous symbols: [ "C20orf121" ]

Links

ENSG00000124120 ∙ NCBI:79183 ∙ ∙ HGNC:16114 ∙ Uniprot:Q9BTX7 ∙ 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 TTPAL gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TTPAL 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						0
missense			15			15
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	15	0	0

Variants in TTPAL

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

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

Position	Type	Phenotype	Significance	ClinVar
20-44480006-G-A		not specified	Uncertain significance (Apr 12, 2024)
20-44480085-C-T		not specified	Uncertain significance (Sep 23, 2023)
20-44480130-G-A		not specified	Uncertain significance (May 13, 2024)
20-44480195-C-T		not specified	Uncertain significance (Jan 30, 2024)
20-44480280-G-A		not specified	Uncertain significance (Mar 17, 2023)
20-44480320-A-C		not specified	Uncertain significance (Dec 11, 2023)
20-44480384-T-C		not specified	Uncertain significance (Feb 17, 2024)
20-44480411-C-A		not specified	Uncertain significance (Jun 30, 2023)
20-44480429-G-A		not specified	Uncertain significance (Aug 04, 2023)
20-44484392-G-T		not specified	Uncertain significance (Apr 12, 2022)
20-44484439-T-C		not specified	Uncertain significance (Jun 26, 2023)
20-44484459-A-G		not specified	Uncertain significance (Jul 25, 2023)
20-44486623-G-T		not specified	Uncertain significance (Jul 25, 2023)
20-44489313-A-C		not specified	Uncertain significance (Aug 03, 2022)
20-44489350-G-A		not specified	Uncertain significance (Dec 22, 2023)
20-44489374-G-A		not specified	Uncertain significance (Jan 04, 2022)
20-44489404-G-A		not specified	Uncertain significance (Mar 15, 2024)
20-44489477-C-T		not specified	Uncertain significance (May 05, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TTPAL	protein_coding	protein_coding	ENST00000372904	4	18719

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.116	0.879	125732	0	16	125748	0.0000636

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.42	144	201	0.717	0.0000117	2208
Missense in Polyphen		51	81.78	0.62362		905
Synonymous	0.146	82	83.7	0.980	0.00000499	715
Loss of Function	2.44	4	13.8	0.290	8.86e-7	147

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000904	0.0000904
Ashkenazi Jewish	0.00	0.00
East Asian	0.000164	0.000163
Finnish	0.00	0.00
European (Non-Finnish)	0.0000705	0.0000703
Middle Eastern	0.000164	0.000163
South Asian	0.0000987	0.0000980
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May act as a protein that binds a hydrophobic ligand. {ECO:0000305}.

Recessive Scores

• pRec: 0.106

Intolerance Scores

• loftool: 0.243
• rvis_EVS: 0.28
• rvis_percentile_EVS: 71.27

Haploinsufficiency Scores

• pHI: 0.387
• hipred: Y
• hipred_score: 0.654
• ghis: 0.445

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.554

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Ttpal

Gene ontology

• Cellular component: membrane