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. Author manuscript; available in PMC: 2017 Sep 29.
Published in final edited form as: J Immunol. 2015 Aug 28;195(7):3171–3179. doi: 10.4049/jimmunol.1501132

Figure 5. Two independent mutations were found in Artemis.

Figure 5

(Panel A) The coding region of the Artemis transcript is indicated by slanted lines and genotypes at mutated positions are shown for chromosomes that carry normal, h12, and h16 haplotypes. Mutant alleles that cause SCID are shown in pink lettering. (Panel B) Genomic sequence of the h16 haplotype shows a splice donor site mutation (g.51578763 G→A) responsible for the lack of exon 8 in all h16 transcripts. Capital letters denote exonic sequence while lower case letters denote intronic sequence. (Panel C) A nonsense point mutation (g.51584489 G→A) in exon 10 changes the Tryptophan at position 267 to a stop codon in the h12 haplotype.