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. 2008 Aug 13;17(2):205–212. doi: 10.1038/ejhg.2008.150

Figure 3.

Figure 3

(a) Sequence analysis of RAG-1 gene in two related families. A novel homozygous single base pair missense mutation was identified (C2438T) in RAG-1 among all three Dine SCID patients, this mutation encodes an arginine to tryptophan substitution at position 776 (R776W). Parents and non-affected sibling were found to be heterozygous for the C2438T mutation (see Figure 1). (b) Protein sequence alignment of RAG-1 from 10 selected species (of >100 species inspected) revealing that the arginine at position 776 in the RAG-1 protein is highly conserved.