Figure 1: POLR1C mutations in leukodystrophy and TCS cases.
From: Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III
(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.
