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. 2014 Sep 9;4:6311. doi: 10.1038/srep06311

Figure 2. Missense mutations found in human NAPRT1 gene.

Figure 2

(A). Electropherograms showing 341C>T (left) and 1019C>T (right) replacements in heterozygosity that lead to Val106Met and Arg332Cys substitutions, respectively. Geneious software was used to visualize the sequences. (B). Localization of the amino acids in a multi-species alignment. V106 (left arrow) is conserved in vertebrates, and is substituted by interchangeable residues (Val/Leu) in invertebrate species. R332 (right arrow) is highly conserved, except in the yeast protein.