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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: R627W
cDNA Position: 1879 c→t (exon 10)
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| Disease | Genetics | Frequency | Reference |
| PEO | Found in trans w/A467T in a 39 y.o. male whose unaffected parents are hets for each mutation. | Van Goethem, 2003: absent in 612 Belgian controls. | (Van Goethem et al., 2003a)
PubMed |
| PEO | Found in trans w/ A467T in 2 PEO patients w/ hearing loss | Not found in 250 control individuals | (Horvath et al., 2006) PubMed |
| Alpers | Found in trans w/T914P | (Ashley et al., 2008) and a correction in (Ashley et al., 2009) PubMed |
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| Epilepsy | Found in compound with W748S in teenage sisters with epilepsy, encephalitis with mitochondrial abnormalities affecting neurons | (Nolte et al., 2013) PubMed |
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| Encephalopathy, Seizure, Stroke | Found as homozygous in three unrelated South Asian probands with mitochondrial encephalopathy, seizures and stroke-like episodes. | (Paramasivam et al., 2019) PubMed |
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