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. Author manuscript; available in PMC: 2011 Aug 19.
Published in final edited form as: Arch Pathol Lab Med. 2011 Jul;135(7):925–934. doi: 10.1043/2010-0356-RAR.1

Figure 2.

Figure 2

Human DNA polymerase γ catalytic subunit (pol γA) gene (POLG), functional domains, mutations, and clinical syndromes presumably related to the mutational changes. Exon numbers are marked in the gene diagram. Amino acids are labeled with one letter code. The color of the box labeling the mutation is the same with the color of the clinical syndrome box on the bottom. Abbreviations: MIRAS, mitochondrial recessive ataxia syndrome; NRTI, nucleoside reverse transcriptase inhibitor; SANDO, sensory ataxic neuropathy, dysarthria, and ophthalmoparesis; SCAE, spinocerebellar ataxia-epilepsy syndrome. Adapted from http://tools.niehs.nih.gov/polg, with permission.