Figure 1
From: Localization of sequence variations in PGC-1α influence their modifying effect in Huntington disease
Polymorphic sites and haplotype blocks in PPARGC1A. Linear map with exons (full boxes) and SNP positions relative to the translational start site. Only rs8192678 results in an amino acid change (G482S). MAF indicates minor allele frequency; SNP qualifiers refer to database entries http://www.ncbi.nlm.nih.gov/SNP/. Allele and genotype frequencies of rs7665116 (P = 0.0496) and rs2970870 (P = 0.0012) in HD patients differ significantly from the respective frequencies measured in 60 healthy controls. The localisation of the two haplotype blocks is shown at the bottom. Scales differ for the transcribed sequence and the 5'-untranscribed promoter sequence.