Table 1 (abstract P2011). RNF213 variants in patients with Takayasu arteritis or vasculopathy

1

p.E803G

Behcet's disease/vasculitis

2-3

p.D1386N

Case 2; Severe congenital heart disease

Case 3; Small vessel vasculitis with evolving autoimmunity

4

p.T1705K

lupus –like disease with progressive leukoencephalopathy, presumed small vessel brain disease

5

p.P1721L

Bilateral multifocal cerebral vasculopathy

6

p.P2905L

Stroke with right side focal lesion

7

p.T4155P

Ischaemic stroke

8

p.E4865K

Severe vasculopathy with multi-organ involvement including kidneys

9

p.T1705K

p.I3318V

Left sided hemiplegia and progressive motor function deterioration with perivascular inflammation in brain biopsy

10

p.K4732E

p.L4901F

Transient ischaemic attack (TIA)