The other less common mutations include splice acceptor site immediately preceding exon 3 affecting 6% leading to initiation at p.Met67 and expression of UBA1c [11, 13], Ser56Phe found in UBA1 exon 3 resulting in reduced catalytic activity of UBA1 [13, 14], and the recently identified six novel mutations in UBA1 ( p.His55Tyr, p.Gly477Ala, p.Ala478Ser, p.Asp506Gly, p.Asp506Asn and p.Ser621Cys) which all are known to lead to VEXAS syndrome since none of them lead to UBA1c production [15]. Here, UBA1 is linked to VEXAS syndrome.