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

Amino Acid Substitution: R227W cDNA Position: 679 c→t (exon 3)
Disease	Genetics	Frequency	Reference
PEO	36% of patients with sporadic PEO with multiple mtDNA deletions carry mutations in one of the three genes associated with familial arPEO or adPEO. Twinkle gene in 7% and POLG1 gene in 25% of our Italian and British patients with sporadic PEO. Found as c	7 out of 27patients w/sporadic PEO compared to 250 controls individuals.	(Agostino et al., 2003) PubMed
PEO	Found as compound in trans w/ S1176L.  Also, found as compound in trans with T251I-P587L.		(Lamantea and Zeviani, 2004) PubMed
Alpers, Severe childhood multi-system disorder	In Alpers found as compound with A467T. In severe childhood multi-system disorder found as compound with D1184N	de Vries et al. , 2007 identified 1 (4.76%) children out of 21 with a POLG mutation that were known to have a mitochondrial disorder	(de Vries et al., 2007) PubMed
Myopathy and gastrointestinal obstruction	Found in trans w/ G848S with mtDNA depletion and Cox deficient muscle fibers		(Giordano et al., 2009) PubMed
MDS	Found in a large cohort study.		(Hikmat et al., 2020) PubMed