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: R232G cDNA Position: 694 c→g (exon 3)
Disease	Genetics	Frequency	Reference
Infantile Hepatocerebral Syndrome	Found as compound with T251I and P587L	Ferrari et al., 2005 reported 1 in 9 (11.11%) children with a combination of progressive neurological and hepatic failure, with an allelic frequency of <0.14% (0 out of 350) in the control group.	(Ferrari et al., 2005) PubMed
Alpers	Found in trans w/ [T251I and P587L]		(Ashley et al., 2008) and a correction in (Ashley et al., 2009) PubMed
Hepatocerebral MDS	Found in trans w/ [T251I andP587L]		(Spinazzola et al., 2009) PubMed