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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: R627Q
cDNA Position: 1880 g→a (exon 10)
Disease Genetics Frequency Reference
Ataxia - myopathy  PEO - ataxia - neuropathy Alpers  Found in cis with Q1236H and in trans with A467T  Found in compound in trans with R309H or R1096H in Alpers  Found in cis with Q1236H and in trans with L965stop-E1143G in PEO (Luoma et al., 2005)
PubMed
Ataxia - myopathy  PEO - ataxia - neuropathy Alpers  Found in cis with Q1236H and in trans with A467T  Found in compound in trans with R309H or R1096H in Alpers  Found in cis with Q1236H and in trans with L965stop-E1143G in PEO Not found in 250 control individuals (Horvath et al., 2006)
PubMed
MELAS Found w/ G848S; heterozygous mutation; w/ mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes. (Deschauer et al., 2007)
PubMed
Ataxia Neuropathy Found in cis w/ G11D and in trans w/ R852C. (Wong et al., 2008)
PubMed
Cerebellar ataxia, sensory neuropathy, PEO, and dysphagia Found with G848S in a 35 yr. old patient (Schulte et al., 2009)
PubMed
Cerebellar ataxia, sensory neuropathy, PEO, and dysphagia Found with T1199X ins. a at c.3594 in a 47 yr. old patient (Schulte et al., 2009)
PubMed
Cerebellar ataxia, sensory neuropathy, PEO, and dysphagia Found with R1096C in a 43 yr. old patient (Schulte et al., 2009)
PubMed
Epilepsy and ataxia-neuropathy Found as a compound heterozygote w/S305R in a 5 y.o. with epilepsy that developed ataxia and neuropathy in his teens. (Baruffini et al., 2011)
PubMed
Encephalopathy Found in trans w/ R852C and G11D in a 25 y.o. w/ dementia, encephalopathy, and stroke. Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. (Tang et al., 2011)
PubMed
SANDO Found w/A467T in a 50 y.o. male with ataxia, ptosis, diabetes and mtDNA deletions. (Hanisch et al., 2014)
PubMed
SANDO Found in cis w/Q1236H 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/Q1236H 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
Gait disturbance Found as a heterozygote in a 61 y.o. male with ataxia, speech abnormalities, and swallowing abnormalities (Vogel et al., 2017)
PubMed
Gait disturbance Found w/G848S in a 29 y.o. female with ataxia, speech abnormalities, and swallowing abnormalities (Vogel et al., 2017)
PubMed
mild ophthalmoparesis Found in trans with G848S in a 33 y.o. male with sensory ataxia and neuroathy (Pozzo et al., 2017)
PubMed
SANDO Found in trans with W748S. Exhibit cerebellar and proprioceptive ataxia, dysarthria, cognitive impairment and distal sensorimotor axonal neuropathy (Gebus et al., 2018)
PubMed
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