SLC25A44

solute carrier family 25 member 44, the group of Solute carrier family 25

Basic information

Region (hg38): 1:156193932-156212796

Links

ENSG00000160785 ∙ NCBI:9673 ∙ OMIM:610824 ∙ HGNC:29036 ∙ Uniprot:Q96H78 ∙ 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 SLC25A44 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SLC25A44 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			12			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	12	0	0

Variants in SLC25A44

This is a list of pathogenic ClinVar variants found in the SLC25A44 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-156199950-G-A		not specified	Uncertain significance (Jun 22, 2021)
1-156199978-G-A		not specified	Uncertain significance (Mar 14, 2023)
1-156199987-T-C		not specified	Uncertain significance (Dec 21, 2023)
1-156199990-A-G		not specified	Uncertain significance (Aug 19, 2023)
1-156199992-A-G		not specified	Uncertain significance (Dec 03, 2024)
1-156200021-C-G		not specified	Uncertain significance (May 22, 2024)
1-156200071-G-A		not specified	Uncertain significance (Jul 09, 2021)
1-156200148-G-C		not specified	Uncertain significance (Jun 07, 2022)
1-156200175-G-A		not specified	Uncertain significance (Sep 26, 2024)
1-156200194-G-A		not specified	Uncertain significance (Nov 28, 2023)
1-156200284-T-C		not specified	Uncertain significance (Jan 04, 2022)
1-156200321-A-T		not specified	Uncertain significance (May 24, 2024)
1-156200332-C-T		not specified	Uncertain significance (Feb 16, 2023)
1-156207983-T-A		not specified	Uncertain significance (Feb 27, 2024)
1-156208005-C-T		not specified	Uncertain significance (Sep 01, 2024)
1-156210355-T-C		not specified	Uncertain significance (Jul 05, 2023)
1-156210400-G-A		not specified	Uncertain significance (May 28, 2024)
1-156210418-C-T		not specified	Uncertain significance (Apr 11, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SLC25A44	protein_coding	protein_coding	ENST00000359511	3	18708

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000925	0.946	125731	0	17	125748	0.0000676

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.95	111	186	0.597	0.0000105	2036
Missense in Polyphen		34	76.525	0.4443		831
Synonymous	1.32	55	68.9	0.798	0.00000343	656
Loss of Function	1.71	7	13.9	0.504	9.27e-7	126

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000904	0.0000904
Ashkenazi Jewish	0.00	0.00
East Asian	0.000163	0.000109
Finnish	0.00	0.00
European (Non-Finnish)	0.0000891	0.0000879
Middle Eastern	0.000163	0.000109
South Asian	0.0000327	0.0000327
Other	0.000334	0.000326

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.113

Intolerance Scores

• loftool: 0.518
• rvis_EVS: -0.43
• rvis_percentile_EVS: 25.15

Haploinsufficiency Scores

• pHI: 0.286
• hipred: Y
• hipred_score: 0.673
• ghis: 0.605

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.672

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Slc25a44

Gene ontology

• Biological process: transmembrane transport
• Cellular component: mitochondrial inner membrane;integral component of membrane
• Molecular function: transmembrane transporter activity