Autosomal recessive juvenile Parkinson disease 2: genes and variants
Autosomal recessive juvenile Parkinson disease 2 is linked to 1 analyzed protein (PRKN). 15 DNA variants are known to cause it; 31 more are uncertain, and 1 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Autosomal recessive juvenile Parkinson disease 2
PRKN: E3 ubiquitin-protein ligase parkin
Its parkin ubiquitin-ligase activity marks damaged mitochondrial proteins after PINK1 activation and helps eliminate dysfunctional mitochondria through mitophagy. Biallelic loss-of-function variants are a major cause of autosomal recessive juvenile or early-onset Parkinson disease.
15 disease-causing and 31 uncertain variants in PRKN are linked to Autosomal recessive juvenile Parkinson disease 2.
Where Autosomal recessive juvenile Parkinson disease 2 variants cluster
- PRKN RING-type 2 (positions 418–449): 4 of 15 disease-causing changes, 3.9× more than its size predicts.
- PRKN RING-type 1 (positions 238–293): 4 of 15 disease-causing changes, 2.2× more than its size predicts.
- PRKN Ubiquitin-like (positions 1–76): 4 of 15 disease-causing changes, 1.6× more than its size predicts.
Known disease-causing variants in Autosomal recessive juvenile Parkinson disease 2
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| PRKN C441R | 441 | RING-type 2 | Disease-causing (★★) |
| PRKN G430D | 430 | RING-type 2 | Disease-causing (★★) |
| PRKN C253Y | 253 | RING-type 1 | Disease-causing (★★) |
| PRKN G284R | 284 | RING-type 1 | Disease-causing (★★) |
| PRKN V56E | 56 | Ubiquitin-like | Disease-causing (★★) |
| PRKN M1T | 1 | Ubiquitin-like | Disease-causing (★★) |
| PRKN R42P | 42 | Ubiquitin-like | Disease-causing (★★) |
| PRKN K211N | 211 | RING-type 0 | Disease-causing (★★) |
| PRKN R275W | 275 | RING-type 1 | Disease-causing (★★) |
| PRKN R33Q | 33 | Ubiquitin-like | Disease-causing (★★) |
| PRKN G135R | 135 | Necessary for PINK1-dependent localization to mi | Disease-causing (★★) |
| PRKN M434T | 434 | RING-type 2 | Disease-causing (★) |
| PRKN C431F | 431 | RING-type 2 | Disease-causing |
| PRKN K161N | 161 | RING-type 0 | Disease-causing |
| PRKN T240R | 240 | RING-type 1 | Disease-causing |
Uncertain variants in Autosomal recessive juvenile Parkinson disease 2 that look disease-causing
| Variant | Position | Protein part | Clinical label | Evidence |
|---|---|---|---|---|
| PRKN M434I | 434 | RING-type 2 | Uncertain (★★) | +6: 2 other pathogenic changes within 3 positions; M434T at the same position is pathogenic; REVEL 0.775 |
Which prediction tools work for Autosomal recessive juvenile Parkinson disease 2
How often each tool ranks a disease-causing variant above a harmless one (AUROC × 100).
- PolyPhen-2: 84 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- REVEL: 82 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- CATVariant: 81 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- CADD: 80 out of 100
- SIFT: 77 out of 100
- DMS / MaveDB: 64 out of 100
- phyloP: 61 out of 100
Diseases related to Autosomal recessive juvenile Parkinson disease 2
- Ovarian cancer, also linked to PRKN
- Autosomal dominant Parkinson disease 8, also linked to PRKN
- Ovarian neoplasm, also linked to PRKN
- Lung cancer, also linked to PRKN
- Young-onset Parkinson disease, also linked to PRKN
- Parkinson disease, also linked to PRKN
Frequently asked questions
Which genes are linked to Autosomal recessive juvenile Parkinson disease 2?
In CATVariant, Autosomal recessive juvenile Parkinson disease 2 is linked to 1 analyzed protein: PRKN (E3 ubiquitin-protein ligase parkin).
How many genetic variants are linked to Autosomal recessive juvenile Parkinson disease 2?
54 variants: 15 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 31 are of uncertain significance or have conflicting reports.
Which uncertain variants in Autosomal recessive juvenile Parkinson disease 2 look disease-causing?
1 uncertain variants reach the likely-pathogenic range of the ACMG/AMP points scale on computable evidence, for example PRKN M434I. These are leads for expert review, not diagnoses.
Which variant effect predictor works best for Autosomal recessive juvenile Parkinson disease 2?
Among tools not trained on clinical labels, CADD separates this disease's known disease-causing variants from harmless ones best (AUROC 0.80, based on 12 disease-causing and 13 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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