TAMM41

TAM41 mitochondrial translocator assembly and maintenance homolog

Basic information

Region (hg38): 3:11790441-11846919

Previous symbols: [ "C3orf31" ]

Links

ENSG00000144559 ∙ NCBI:132001 ∙ OMIM:614948 ∙ HGNC:25187 ∙ Uniprot:Q96BW9 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• combined oxidative phosphorylation deficiency 56 (Limited), mode of inheritance: AR
• combined oxidative phosphorylation deficiency 56 (Strong), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Combined oxidative phosphorylation deficiency 56	AR	General	Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing	Biochemical; Musculoskeletal; Neurologic	35321494

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the TAMM41 gene.

• Inborn genetic diseases (11 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the TAMM41 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			11	1		12
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	11	1	0

Variants in TAMM41

This is a list of pathogenic ClinVar variants found in the TAMM41 region.

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

Position	Type	Phenotype	Significance	ClinVar
3-11790537-T-G		not specified	Uncertain significance (Sep 01, 2021)
3-11790549-T-C		not specified	Uncertain significance (Jun 22, 2021)
3-11790571-C-A		not specified	Uncertain significance (Feb 12, 2024)
3-11807874-G-A			Uncertain significance (Sep 23, 2019)
3-11809546-T-C		not specified	Uncertain significance (Dec 27, 2023)
3-11809574-C-T		not specified	Uncertain significance (Oct 29, 2021)
3-11809577-C-A		not specified	Uncertain significance (May 26, 2022)
3-11809584-G-GT		Respiratory failure;Bilateral ptosis;Dysphagia;Gastroesophageal reflux • Combined oxidative phosphorylation deficiency 56	Pathogenic (Nov 27, 2022)
3-11809682-T-C		not specified	Uncertain significance (Nov 08, 2022)
3-11809684-T-C		Combined oxidative phosphorylation deficiency 56	Pathogenic (Nov 28, 2022)
3-11817262-C-T		not specified	Uncertain significance (Oct 22, 2021)
3-11817304-G-T		not specified	Uncertain significance (Dec 20, 2023)
3-11829740-A-G		not specified	Uncertain significance (Dec 19, 2023)
3-11829768-C-T		not specified	Uncertain significance (Dec 20, 2023)
3-11829797-G-A		not specified	Uncertain significance (Aug 02, 2021)
3-11829826-T-A		not specified	Uncertain significance (Dec 28, 2023)
3-11829831-G-C		not specified	Uncertain significance (Dec 28, 2023)
3-11839221-C-A		Ankle flexion contracture;Neonatal hypotonia;Bilateral ptosis;Abnormal facial shape;Proximal muscle weakness • Combined oxidative phosphorylation deficiency 56	Pathogenic (Nov 27, 2022)
3-11839223-G-A		Combined oxidative phosphorylation deficiency 56	Pathogenic (Nov 28, 2022)
3-11839235-C-A		not specified	Uncertain significance (Nov 05, 2021)
3-11839304-T-C		Respiratory failure;Bilateral ptosis;Dysphagia;Gastroesophageal reflux • Combined oxidative phosphorylation deficiency 56	Pathogenic (Nov 27, 2022)
3-11844046-T-C		not specified	Uncertain significance (Nov 27, 2023)
3-11844088-T-C		not specified	Likely benign (May 31, 2023)
3-11844091-A-G		Ankle flexion contracture;Neonatal hypotonia;Bilateral ptosis;Abnormal facial shape;Proximal muscle weakness • Combined oxidative phosphorylation deficiency 56	Pathogenic (Nov 27, 2022)
3-11844123-A-G		not specified	Uncertain significance (Jan 26, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
TAMM41	protein_coding	protein_coding	ENST00000273037	7	56478

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000110	0.808	125698	0	50	125748	0.000199

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.00649	172	172	1.00	0.00000856	2065
Missense in Polyphen		48	57.985	0.8278		701
Synonymous	-1.03	80	69.2	1.16	0.00000380	592
Loss of Function	1.37	12	18.3	0.654	0.00000103	194

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000637	0.000637
Ashkenazi Jewish	0.00	0.00
East Asian	0.000545	0.000544
Finnish	0.000231	0.000231
European (Non-Finnish)	0.000124	0.000123
Middle Eastern	0.000545	0.000544
South Asian	0.000197	0.000163
Other	0.000490	0.000489

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Catalyzes the formation of CDP-diacylglycerol (CDP-DAG) from phosphatidic acid (PA) in the mitochondrial inner membrane. Required for the biosynthesis of the dimeric phospholipid cardiolipin, which stabilizes supercomplexes of the mitochondrial respiratory chain in the mitochondrial inner membrane (By similarity). {ECO:0000250}.

Intolerance Scores

• rvis_EVS: -0.07
• rvis_percentile_EVS: 48.54

Haploinsufficiency Scores

• pHI: 0.114
• hipred: N
• hipred_score: 0.251
• ghis: 0.531

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: E
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Tamm41
• Phenotype: mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); homeostasis/metabolism phenotype

Gene ontology

• Biological process: CDP-diacylglycerol biosynthetic process;cardiolipin biosynthetic process
• Cellular component: extrinsic component of mitochondrial inner membrane
• Molecular function: phosphatidate cytidylyltransferase activity;protein binding