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Your Environment. Your Health.

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: Q1236H
cDNA Position: 3708 g→t (exon 23)
Disease Genetics Frequency Reference
Neutral polymorphism 4.0% of 450 individuals (GeneSNPs, 2004) 
PubMed
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
Alpers Found in trans with A467T, and in cis w/ T849H. Also found as a compound w/ R1096C. (Wong et al., 2008)
PubMed
mtDNA depletion In cis w/ H1110Y and in trans w/ E1143G+W748S (Taanman et al., 2008)
PubMed
Reference # rs3087374
PubMed
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
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
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
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
PEO Found in trans w/G517V in a 23 y.o. with PEO and hypostenia. (Pozzo et al., 2017)
PubMed
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
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