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. 2015 Jul 7;6:7623. doi: 10.1038/ncomms8623

Figure 1. POLR1C mutations in leukodystrophy and TCS cases.

Figure 1

(a) Genomic organization of POLR1C in humans (UCSC Genome Browser hg19): mutations and their positions within the POLR1C gDNA; in light blue are mutations that cause TCS, mutations in black cause POLR3-related leukodystrophy. (b) POLR1C mutations in patients with leukodystrophy affect amino acids that are conserved through species.