Fig.7.

Human α-synuclein and its disease-causing mutations. (a), Diagram of the 140 amino acid human α-synuclein protein. The core regions of the seven amino-terminal repeats are shown as blue bars. (b), An increase in gene dosage (duplication or triplication) of the chromosomal region containing SNCA or missense mutations in SNCA cause dominantly inherited forms of Parkinson’s disease and dementia with Lewy bodies. (c), The repeats (residues 7–87) of human α-synuclein are shown, with disease-causing missense mutations (A30P, E46K, H50Q, G51D, A53E and A53T) given as blue letters. Amino acids that are identical in at least five of the seven repeats are shaded in blue.