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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: Q1236H
cDNA Position: 3708 g→t (exon 23)
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| Disease | Genetics | Frequency | Reference |
| Neutral polymorphism | 4.0% of 450 individuals | (GeneSNPs, 2004) PubMed |
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| Neutral polymorphism | Found in 5 PEO patients as a heterozygous mutation | Di Fonzo 2003: Not found in 100 DNA samples from healthy Italians | (Di Fonzo et al., 2003) PubMed |
| Neutral polymorphism | Found in cis with R627Q in trans with A467T in a family w/ ataxia - myopathy and ptosis |
(Luoma et al., 2005) PubMed |
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| Alpers | Found in trans with A467T, and in cis w/ T849H. Also found as a compound w/ R1096C. | (Wong et al., 2008) PubMed |
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| mtDNA depletion | In cis w/ H1110Y and in trans w/ E1143G+W748S | (Taanman et al., 2008) PubMed |
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| Reference # rs3087374 | PubMed |
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| VPA induced liver toxicity | Found in 5 patients ages 2 to 47 with VPA-induced hepatotoxicity as a heterozygous mutation | A frequency 1.9x10e-4 out of 968 alleles of ethnically matched population controls | (Stewart et al., 2010) PubMed |
| Found in a Chinese population with Parkinsonism at an allelic frequency of 0.281 | 344 Chinese parkinson patients and 144 controls | (Gui et al., 2012) PubMed |
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| Sensory axonal neuronopathy | Found in a 67 y.o. female and her 61 y.o. brother. Found in compound w/Y837C, D122Y, K601E. Both patients have an ataxia, dysarthria, seizures, and sensory neuropathies. | Not found in 200 chromosomes controls | (Zabalza et al., 2014) PubMed |
| Inclusion body myositis | Found as a heterozygous mutation in 5 unrelated Swedish patients with Inclusion body myostitis. All patients had COX deficient muscle fibers, ragged red fibers, and mtDNA deletions. | 5 in 26 patients with inclusion body myositis. 8 of which had heterozygous POLG mutations. | (Lindgen et al., 2015) PubMed |
| SANDO | Found in cis w/R627Q and in trans w/W748S and E1143G in a 38 y.o. with sensory neuropathy, ataxia, PEO, and cognitive impairment. | (Bereau et al., 2016) PubMed |
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| SANDO | Found in cis w/R627Q and in trans w/W748S and E1143G in a 47 y.o. with sensory neuropathy, ataxia, Ophthalmoparesis and muscle weakness. | (Bereau et al., 2016) PubMed |
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| Progressive multi-systemic disorder | Found in cis w/Y955H in an 8 month old with weight loss, hearing loss, myopathy, liver failure, decreased ATP production, COX negative muscle fibers, and ragged red fibers. | (Siibak et al., 2017) PubMed |
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| PEO | Found in trans w/G517V in a 23 y.o. with PEO and hypostenia. | (Pozzo et al., 2017) PubMed |
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| Epilepsy | Heterozygous or homozygous or in trans with W748S or E1143G. No significant risk factors for VHT or pancreatic toxicity. | 8.3% in the European population, 14.8%?15.9% in the Finnish population and about 1% in Africans and Asians. | (Hynynen et al., 2018) PubMed |