Human DNA Polymerase Gamma Mutation Database

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All inquiries, additions to the list, and comments should be made to Bill Copeland.

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Amino Acid Substitution: P241L cDNA Position: 722 c→t (exon 3)
Disease	Genetics	Frequency	Reference
Neutral polymorphism		<1 % in control populations	(Luoma et al., 2007) PubMed
Parkinsonism	Found in a Chinese population with Parkinsonism at an allelic frequency of 0.326	344 Chinese parkinson patients and 144 controls	(Gui et al., 2012) PubMed