Arterial tortuosity syndrome: genes and variants
Arterial tortuosity syndrome is linked to 1 analyzed protein (SLC2A10). 12 DNA variants are known to cause it; 170 more are uncertain, and 3 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Arterial tortuosity syndrome
SLC2A10: Solute carrier family 2, facilitated glucose transporter member 10
12 disease-causing and 170 uncertain variants in SLC2A10 are linked to Arterial tortuosity syndrome.
Known disease-causing variants in Arterial tortuosity syndrome
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| SLC2A10 R231Q | 231 | Cytoplasmic | Disease-causing (★★) |
| SLC2A10 R231W | 231 | Cytoplasmic | Disease-causing (★★) |
| SLC2A10 S81R | 81 | Transmembrane | Disease-causing (★★) |
| SLC2A10 Q243K | 243 | Transmembrane | Disease-causing (★★) |
| SLC2A10 L300W | 300 | Transmembrane | Disease-causing (★★) |
| SLC2A10 G426W | 426 | Transmembrane | Disease-causing (★★) |
| SLC2A10 G23D | 23 | Transmembrane | Disease-causing (★) |
| SLC2A10 G23V | 23 | Transmembrane | Disease-causing (★) |
| SLC2A10 R132L | 132 | Cytoplasmic | Disease-causing (★) |
| SLC2A10 G445E | 445 | Cytoplasmic | Disease-causing (★) |
| SLC2A10 C304W | 304 | Transmembrane | Disease-causing (★) |
| SLC2A10 R132W | 132 | Cytoplasmic | Disease-causing |
Uncertain variants in Arterial tortuosity syndrome that look disease-causing
| Variant | Position | Protein part | Clinical label | Evidence |
|---|---|---|---|---|
| SLC2A10 G23S | 23 | Transmembrane | Conflicting reports (★) | +7: 2 other pathogenic changes within 3 positions; G23D at the same position is pathogenic; seen in 2e-06 of gnomAD DNA copies; REVEL 0.912 |
| SLC2A10 G445R | 445 | Cytoplasmic | Uncertain (★★) | +7: in a 3D region that tolerates change poorly (1R); G445E at the same position is pathogenic; seen in 6.8e-07 of gnomAD DNA copies; REVEL 0.883 |
| SLC2A10 R132Q | 132 | Cytoplasmic | Conflicting reports (★) | +6: 2 other pathogenic changes within 3 positions; R132L at the same position is pathogenic; REVEL 0.897 |
Which prediction tools work for Arterial tortuosity syndrome
How often each tool ranks a disease-causing variant above a harmless one (AUROC × 100).
- CATVariant: 100 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- REVEL: 100 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- PolyPhen-2: 100 out of 100 (learned from overlapping clinical labels, so this is optimistic)
- CADD: 98 out of 100
- SIFT: 98 out of 100
- phyloP: 90 out of 100
Diseases related to Arterial tortuosity syndrome
- Familial thoracic aortic aneurysm and aortic dissection, also linked to SLC2A10
- Familial aortopathy, also linked to SLC2A10
- Familial hemophagocytic lymphohistiocytosis, also linked to SLC2A10
- Thoracic aortic aneurysm or dissection, also linked to SLC2A10
Frequently asked questions
Which genes are linked to Arterial tortuosity syndrome?
In CATVariant, Arterial tortuosity syndrome is linked to 1 analyzed protein: SLC2A10 (Solute carrier family 2, facilitated glucose transporter member 10).
How many genetic variants are linked to Arterial tortuosity syndrome?
207 variants: 12 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 170 are of uncertain significance or have conflicting reports.
Which uncertain variants in Arterial tortuosity syndrome look disease-causing?
3 uncertain variants reach the likely-pathogenic range of the ACMG/AMP points scale on computable evidence, for example SLC2A10 G23S, SLC2A10 G445R and SLC2A10 R132Q. These are leads for expert review, not diagnoses.
Which variant effect predictor works best for Arterial tortuosity syndrome?
Among tools not trained on clinical labels, CADD separates this disease's known disease-causing variants from harmless ones best (AUROC 0.98, based on 11 disease-causing and 19 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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