Encephalopathy, acute, infection-induced, susceptibility to, 4: genes and variants
Encephalopathy, acute, infection-induced, susceptibility to, 4 is linked to 1 analyzed protein (CPT2). 8 DNA variants are known to cause it; 58 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Encephalopathy, acute, infection-induced, susceptibility to, 4
CPT2: Carnitine O-palmitoyltransferase 2, mitochondrial
It converts long-chain acylcarnitines back to acyl-CoA inside mitochondria, allowing long-chain fatty acids to undergo beta-oxidation. Biallelic deficiency causes a spectrum from lethal neonatal disease to recurrent exercise- or fasting-triggered rhabdomyolysis.
8 disease-causing and 58 uncertain variants in CPT2 are linked to Encephalopathy, acute, infection-induced, susceptibility to, 4.
Where Encephalopathy, acute, infection-induced, susceptibility to, 4 variants cluster
- CPT2 Mitochondrial matrix (positions 26–178): 4 of 8 disease-causing changes, 2.1× more than its size predicts.
Known disease-causing variants in Encephalopathy, acute, infection-induced, susceptibility to, 4
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| CPT2 P50H | 50 | Mitochondrial matrix | Disease-causing (★★) |
| CPT2 Y120C | 120 | Mitochondrial matrix | Disease-causing (★★) |
| CPT2 R151W | 151 | Mitochondrial matrix | Disease-causing (★★) |
| CPT2 P227L | 227 | Mitochondrial matrix | Disease-causing (★★) |
| CPT2 Y479C | 479 | Mitochondrial matrix | Disease-causing (★★) |
| CPT2 I502T | 502 | Mitochondrial matrix | Disease-causing (★★) |
| CPT2 A67G | 67 | Mitochondrial matrix | Disease-causing (★★) |
| CPT2 V605L | 605 | Mitochondrial matrix | Disease-causing (★★) |
Which prediction tools work for Encephalopathy, acute, infection-induced, susceptibility to, 4
How often each tool ranks a disease-causing variant above a harmless one (AUROC × 100).
- REVEL: 89 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- CATVariant: 89 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- SIFT: 83 out of 100
- PolyPhen-2: 82 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- CADD: 82 out of 100
- phyloP: 75 out of 100
Same protein, different disease
- Carnitine palmitoyltransferase II deficiency is also caused by CPT2 variants; they fall mostly in different places as the Encephalopathy, acute, infection-induced, susceptibility to, 4 variants (15 disease-causing).
- Carnitine palmitoyl transferase II deficiency, myopathic form is also caused by CPT2 variants; they fall mostly in different places as the Encephalopathy, acute, infection-induced, susceptibility to, 4 variants (11 disease-causing).
- Carnitine palmitoyl transferase II deficiency, severe infantile form is also caused by CPT2 variants; they fall mostly in different places as the Encephalopathy, acute, infection-induced, susceptibility to, 4 variants (11 disease-causing).
- Carnitine palmitoyl transferase II deficiency, neonatal form is also caused by CPT2 variants; they fall mostly in different places as the Encephalopathy, acute, infection-induced, susceptibility to, 4 variants (9 disease-causing).
Diseases related to Encephalopathy, acute, infection-induced, susceptibility to, 4
- Carnitine palmitoyltransferase II deficiency, also linked to CPT2
- Carnitine palmitoyl transferase II deficiency, severe infantile form, also linked to CPT2
- Carnitine palmitoyl transferase II deficiency, myopathic form, also linked to CPT2
- Carnitine palmitoyl transferase II deficiency, neonatal form, also linked to CPT2
Frequently asked questions
Which genes are linked to Encephalopathy, acute, infection-induced, susceptibility to, 4?
In CATVariant, Encephalopathy, acute, infection-induced, susceptibility to, 4 is linked to 1 analyzed protein: CPT2 (Carnitine O-palmitoyltransferase 2, mitochondrial).
How many genetic variants are linked to Encephalopathy, acute, infection-induced, susceptibility to, 4?
68 variants: 8 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 58 are of uncertain significance or have conflicting reports.
Which uncertain variants in Encephalopathy, acute, infection-induced, susceptibility to, 4 look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
Which variant effect predictor works best for Encephalopathy, acute, infection-induced, susceptibility to, 4?
Among tools not trained on clinical labels, SIFT separates this disease's known disease-causing variants from harmless ones best (AUROC 0.83, based on 8 disease-causing and 10 harmless variants).
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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