Figure 1
Figure 1. Location of germline and somatic mutations of TNFAIP3 on the A20 protein. The green zone represents the ovarian tumor domain; the blue zones represent zinc finger domains. Four germline and potential coding mutations of TNFAIP3 were identified among pSS and lymphoma patients. Two of them have already been described: rs2230926, consisting of the substitution of a thymine with a guanine, resulting in the Cys127 protein, and the TT>A polymorphic dinucleotide located in 3′ untranslated region. We described 2 new mutations: a deletion of 24 bp in exon 1 (New 1) and a substitution of guanine with thymine in exon 9, resulting in the 742Ser protein (New 2). Two new and potential coding mutations of TNFAIP3 were identified among lymphoma sequences. New 3 corresponds to the insertion of 2 guanines in exon 3, leading to a truncated protein (Stop122). New 4 is a guanine to adenine mutation in exon 2 (New 4), leading to a stop codon at position 85.

Location of germline and somatic mutations of TNFAIP3 on the A20 protein. The green zone represents the ovarian tumor domain; the blue zones represent zinc finger domains. Four germline and potential coding mutations of TNFAIP3 were identified among pSS and lymphoma patients. Two of them have already been described: rs2230926, consisting of the substitution of a thymine with a guanine, resulting in the Cys127 protein, and the TT>A polymorphic dinucleotide located in 3′ untranslated region. We described 2 new mutations: a deletion of 24 bp in exon 1 (New 1) and a substitution of guanine with thymine in exon 9, resulting in the 742Ser protein (New 2). Two new and potential coding mutations of TNFAIP3 were identified among lymphoma sequences. New 3 corresponds to the insertion of 2 guanines in exon 3, leading to a truncated protein (Stop122). New 4 is a guanine to adenine mutation in exon 2 (New 4), leading to a stop codon at position 85.

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