We chose to study these four novel mutations (p.Tyr55His, p.Ala478Ser, p.Asp506Asn and p.Asp506Gly) in detail, along with three other recently reported variants in the literature, namely p.Ser56Phe, p.Gly477Ala, and p.Ser621Cys (Beck et al, 2023; Faurel et al, 2023; Poulter et al, 2021; Stiburkova et al, 2023) with the goal of better understanding how UBA1 function is altered in VEXAS syndrome (Fig. 1B). Here, UBA1 is linked to VEXAS syndrome.