SLC22A5 (O76082) variants and mutations

SLC22A5 (also known as O76082) is a human protein-coding gene encoding an organic cation/carnitine transporter 2 protein. It imports carnitine into cells and reabsorbs filtered carnitine in the kidney, maintaining the stores required for mitochondrial long-chain fatty-acid oxidation. Biallelic loss-of-function variants cause primary carnitine deficiency with hypoketotic hypoglycemia, skeletal weakness, or cardiomyopathy. This analysis covers 1,147 SLC22A5 variants and mutations. Of these, 81% have computational variant effect predictions. Disease context includes Systemic primary carnitine deficiency, systemic primary carnitine deficiency disease, and Decreased circulating carnitine concentration. Example SLC22A5 variants include M1I, M1L, and M1R.

Variant analysis overview

Gene: SLC22A5
Protein: O76082
UniProt accession: O76082
Organism: Homo sapiens
Variants analyzed: 1147
Variant scope: all variants
Completed: 2026-08-20

Variant and mutation evidence

Variant composition: 877 unspecified-consequence records; 132 missense variants; 105 synonymous variants; 18 frameshift variants; 4 stop-gained variants; 2 in-frame deletions; 1 in-frame insertions; 1 splice acceptor variant; 1 splice-region variants; 6 substitution
Prediction scores: 931 variants have prediction scores (81% of the analyzed set).

Clinical, disease, and population context

Disease context: 25 disease associations are represented. Top associations: Systemic primary carnitine deficiency, systemic primary carnitine deficiency disease, Decreased circulating carnitine concentration, hereditary disease, asthma, inflammatory bowel disease, Crohn disease, chronic rhinosinusitis, Acute rhabdomyolysis, Congenital myasthenic syndromes, Presynaptic congenital myasthenic syndromes, neurodegenerative disease.

Protein structure and variant hotspots

Protein features: 12 transmembrane segments; 1 binding sites; 5 post-translational modification sites.
Structural context: 426 variants have structural context.
PTM context: 8 variants overlap post-translational modification sites.

Data sources

Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, 3D Hotspot Analysis, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, ClinGen, MaveDB, LitVar.

Notable SLC22A5 variants

Examples include M1I, M1L, M1R, M1T, M1V, R2G, R2L, R2P. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.

SLC22A5 analysis run — SLC22A5 (1,147 variants) — completed 2026-08-20