Figure 4.
(A–B) (modified from Maccari et al44): overview of PIK3CD disease-causing variants in the ESID registry patients and their variant distribution. (C) PIK3R1 variant (modified from Lucas et al39) shows affected APDS2 patients are heterozygous for a PIK3R1 splice-site mutation that causes an in-frame deletion of exon 11. Protein schematic for p85α, p55α, and p50α isoforms of PIK3R1 indicating amino acid residue numbers (top), structural domains, region deleted by the patient splice mutation, and the p110-binding region. BH, breakpoint cluster region homology; nSH2 and cSH2, N-terminal and C-terminal Src homology 2; PRR, proline-rich region; SH3, Src homology 3.

(A–B) (modified from Maccari et al44): overview of PIK3CD disease-causing variants in the ESID registry patients and their variant distribution. (C) PIK3R1 variant (modified from Lucas et al39) shows affected APDS2 patients are heterozygous for a PIK3R1 splice-site mutation that causes an in-frame deletion of exon 11. Protein schematic for p85α, p55α, and p50α isoforms of PIK3R1 indicating amino acid residue numbers (top), structural domains, region deleted by the patient splice mutation, and the p110-binding region. BH, breakpoint cluster region homology; nSH2 and cSH2, N-terminal and C-terminal Src homology 2; PRR, proline-rich region; SH3, Src homology 3.

This Feature Is Available To Subscribers Only

or Create an Account

Close Modal
Close Modal