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: A1105T cDNA Position: 3313 g→a (exon 21)
Disease	Genetics	Frequency	Reference
PEO	Found as a heterozygous mutation and as a compound heterozygous mutation w/ N468D in 3 patients of the same family all w/PEO	Luoma, 2004: None noted in screening of 1640 healthy Finnish control chromosomes.	(Luoma et al., 2004) PubMed
PEO	Found d as a compound heterozygous mutation w/ N468D in 3 patients w/ mtDNA deletions and mutations. Proposed replication stalling as the principal cause of deletion formation.		(Wanrooij et al., 2004) PubMed
MDS	Found in a large cohort study.		(Hikmat et al., 2020) PubMed