Fig. 2
From: A variant of RAG1 gene identified in severe combined immunodeficiency: a case report
Schematic protein structure of RAG1 and species conservation analysis. a Pedigree of the family with RAG1 deficiency. Diagonal up arrow present proband. b Sanger sequencing validation of RAG1 mutation in proband and his parents. The red square confirms RAG1 mutation site. c Multiple species and mutation sequences alignments of RAG1 protein. The mutated site was colored and it was conserved in several species. d Schematic representation of the RAG1 protein domains. The full length of RAG1 protein is 1043 amino acids. It contains the RING finger domain, zinc-finger domain (ZF), HBR/NBR domain, and V(D)J recombination-activating region. The mutation-produced amino acid 716 changed from arginine to glutamine annotate as p.R716Q