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

Amino Acid Substitution: A862T cDNA Position: 2584 g→a (exon 16)
Disease	Genetics	Frequency	Reference
Ataxia Neuropathy	Compound heterozygous with R964C		(Wong et al., 2008) PubMed
PEO with ataxia	Found in trans w/R1047W in a 61 y.o. with PEO, ataxia, and mtDNA deletions		(Stewart et al., 2009) PubMed
Cerebellar ataxia, neuropathy, epilepsy, and restless leg syndrome	Found heterozygous with R964C in 2 siblings that died in their early 20's		(Stricker et al., 2009) PubMed
Alpers-like	Found in trans with R1081Q in a 7 y.o. male with Alpers-like symptoms. Affected sibling.		(Ferreira et al., 2011) PubMed
Alpers-like	Found in trans with R1081Q in a 4 y.o. male with Alpers-like symptoms. Affected sibling.		(Ferreira et al., 2011) PubMed
Myelopathy,myopathy, peripheral neuropathy and subcortical grey matter degeneration	Found in trans w/H277L in a 66 y.o. female with mtDNA deletions and subcortical grey matter degeneration		(McKelvie et al., 2012) PubMed
PEO	Found in trans w/ R1047W in a 61 y.o. female with PEO, ptosis, peripheral neuropathy, ataxia, and dysarthria.		(Lax et al., 2012a) PubMed