TIMM44

translocase of inner mitochondrial membrane 44, the group of TIM23 complex

Basic information

Region (hg38): 19:7926717-7943667

Links

ENSG00000104980 ∙ NCBI:10469 ∙ OMIM:605058 ∙ HGNC:17316 ∙ Uniprot:O43615 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• thyroid cancer (Limited), mode of inheritance: AD

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the TIMM44 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TIMM44 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	10	11
missense			32	2	4	38
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region			1	1	6	8
non coding			1	2	10	13
Total	0	0	33	5	24

Variants in TIMM44

This is a list of pathogenic ClinVar variants found in the TIMM44 region.

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

Position	Type	Phenotype	Significance	ClinVar
19-7927167-A-C		not specified	Benign (Jan 09, 2014)
19-7927192-G-A		not specified	Uncertain significance (Jul 12, 2023)
19-7927239-G-A			Uncertain significance (Aug 29, 2016)
19-7927241-G-A		not specified	Benign (Jan 09, 2014)
19-7927273-G-C		not specified	Uncertain significance (Mar 07, 2023)
19-7927274-C-T		not specified	Likely benign (Jan 06, 2015)
19-7927294-G-A		not specified	Uncertain significance (Feb 10, 2022)
19-7927658-G-A		not specified	Uncertain significance (Apr 25, 2022)
19-7927688-T-C		not specified	Uncertain significance (Dec 07, 2021)
19-7927692-T-C		not specified	Uncertain significance (Apr 29, 2024)
19-7927734-C-T		not specified	Uncertain significance (Mar 12, 2024)
19-7927740-C-T		not specified	Uncertain significance (Feb 23, 2023)
19-7927760-A-G			Uncertain significance (-)
19-7928074-T-C		not specified	Benign (Jan 09, 2014)
19-7928082-C-T		not specified	Likely benign (Apr 08, 2022)
19-7928084-T-C		not specified	Uncertain significance (Oct 06, 2022)
19-7928091-T-C		not specified	Benign (Oct 24, 2013)
19-7928102-C-A		not specified	Uncertain significance (Dec 13, 2021)
19-7931102-TA-T			Likely benign (Jan 27, 2020)
19-7931102-T-TA			Benign (Jan 13, 2021)
19-7931158-T-C		not specified	Uncertain significance (Aug 02, 2023)
19-7931186-G-A			Benign (Jun 05, 2018)
19-7932673-C-T		not specified	Uncertain significance (Nov 20, 2023)
19-7932690-C-T		not specified	Benign (Oct 16, 2013)
19-7932691-G-T			not provided (-)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TIMM44	protein_coding	protein_coding	ENST00000270538	13	17203

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00159	0.998	125729	0	19	125748	0.0000756

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.232	267	278	0.961	0.0000200	2935
Missense in Polyphen		38	51.359	0.7399		538
Synonymous	-0.503	128	121	1.06	0.00000985	852
Loss of Function	3.20	10	28.4	0.352	0.00000171	298

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000289	0.0000289
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.000115	0.000114
Middle Eastern	0.0000544	0.0000544
South Asian	0.0000986	0.0000980
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Essential component of the PAM complex, a complex required for the translocation of transit peptide-containing proteins from the inner membrane into the mitochondrial matrix in an ATP-dependent manner. Recruits mitochondrial HSP70 to drive protein translocation into the matrix using ATP as an energy source. {ECO:0000250|UniProtKB:Q01852}.
• Pathway: Metabolism of proteins;Mitochondrial protein import (Consensus)

Recessive Scores

• pRec: 0.180

Intolerance Scores

• loftool: 0.522
• rvis_EVS: 0.09
• rvis_percentile_EVS: 60.65

Haploinsufficiency Scores

• pHI: 0.166
• hipred: Y
• hipred_score: 0.745
• ghis: 0.523

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: E
• gene_indispensability_pred: E
• gene_indispensability_score: 0.991

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Timm44

Gene ontology

• Biological process: protein targeting to mitochondrion;protein import into mitochondrial matrix
• Cellular component: mitochondrion;mitochondrial inner membrane;mitochondrial matrix
• Molecular function: protein binding;ATP binding;chaperone binding