SLC25A32

solute carrier family 25 member 32, the group of Solute carrier family 25

Basic information

Region (hg38): 8:103398635-103415189

Links

ENSG00000164933 ∙ NCBI:81034 ∙ OMIM:138480 ∙ HGNC:29683 ∙ Uniprot:Q9H2D1 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• exercise intolerance, riboflavin-responsive (Limited), mode of inheritance: AR
• exercise intolerance, riboflavin-responsive (Strong), mode of inheritance: AR
• exercise intolerance, riboflavin-responsive (Limited), mode of inheritance: Unknown

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Exercise intolerance, riboflavin-responsive	AR	Biochemical	The condition involves recurrent exercise intolerance, and medical management (with oral riboflavin) has been described as being efficacious related to both biochemical and clinical parameters	Biochemical; Musculoskeletal	26933868

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the SLC25A32 gene.

• not_provided (187 variants)
• not_specified (51 variants)
• SLC25A32-related_disorder (8 variants)
• Exercise_intolerance,_riboflavin-responsive (3 variants)
• Prostate_cancer (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the SLC25A32 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000030780.5. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous			2	40	1	43
missense		1	104	4	1	110
nonsense			3			3
start loss			2			2
frameshift			6			6
splice donor/acceptor (+/-2bp)			7			7
Total	0	1	124	44	2

Highest pathogenic variant AF is 0.00017119039

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
SLC25A32	protein_coding	protein_coding	ENST00000297578	7	16555

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
		125708	0	40	125748	0.000159

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.369	165	179	0.922	0.00000908	2002
Missense in Polyphen		60	81.807	0.73343		915
Synonymous	-1.31	85	71.0	1.20	0.00000366	626
Loss of Function	0.589	14	16.6	0.844	7.83e-7	215

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000393	0.000391
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.0000930	0.0000924
European (Non-Finnish)	0.000161	0.000158
Middle Eastern	0.0000544	0.0000544
South Asian	0.000304	0.000294
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Transports folate across the inner membranes of mitochondria.
• Pathway: miR-targeted genes in lymphocytes - TarBase;miR-targeted genes in muscle cell - TarBase;Metabolism;Metabolism of folate and pterines;Metabolism of water-soluble vitamins and cofactors;Metabolism of vitamins and cofactors (Consensus)

Recessive Scores

• pRec: 0.128

Intolerance Scores

• loftool: 0.518
• rvis_EVS: -0.05
• rvis_percentile_EVS: 50.01

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.700

Gene Damage Prediction

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

Gene ontology

• Biological process: glycine metabolic process;folic acid transport;FAD transmembrane transport;folic acid metabolic process;folate import into mitochondrion
• Cellular component: mitochondrion;mitochondrial inner membrane;integral component of membrane
• Molecular function: folic acid transmembrane transporter activity;FAD transmembrane transporter activity