Fig. 1.
Fig. 1. IL2RG cDNA map showing exons, cDNA numbers corresponding to the first coding nucleotide of each exon, protein domains, and sites of mutations found in unrelated patients with X-linked SCID in our series. Identical mutations found in unrelated patients are surrounded by shaded boxes. For IL2RG domains: (▨) signal peptide; C, conserved cysteine; W, WSEWS box; TM, transmembrane; B, box1-box2 domain; () 3′ untranslated. For X-linked SCID mutations: (•) point mutation, nonsense; (○) point mutation, missense; (▪) insertion, frame shift; (□) insertion, in frame; (▴) deletion, frame shift; (▵) deletion, in frame; (*) splice site; () site of recurrent mutation.

IL2RG cDNA map showing exons, cDNA numbers corresponding to the first coding nucleotide of each exon, protein domains, and sites of mutations found in unrelated patients with X-linked SCID in our series. Identical mutations found in unrelated patients are surrounded by shaded boxes. For IL2RG domains: (▨) signal peptide; C, conserved cysteine; W, WSEWS box; TM, transmembrane; B, box1-box2 domain; () 3′ untranslated. For X-linked SCID mutations: (•) point mutation, nonsense; (○) point mutation, missense; (▪) insertion, frame shift; (□) insertion, in frame; (▴) deletion, frame shift; (▵) deletion, in frame; (*) splice site; () site of recurrent mutation.

Close Modal

or Create an Account

Close Modal
Close Modal