Biochem/physiol Actions
Among the familial mutations of α-synuclein in Parkinson′s disease, E46K has the greatest potential to aggregate. This mutation is a 188G-A transition resulting in a Glu46-to-Lys (E46K) substitution in the amino-terminal region of the protein.
Deposition of α-synuclein as fibrillary tangles is a hallmark of certain neurodegenerative diseases including Parkinson′s. Among the familial mutations of α-synuclein, E46K has the greatest potential to aggregate.
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