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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: G848S
cDNA Position: 2542 g→a (exon 16)
Disease Genetics Frequency Reference
PEO Compound with T251I Lamantea, 2002: absent in 100 control DNA samples (Lamantea et al., 2002) 
PubMed
Alpers Found in compound w/A467T in a 6 mo. male w/ Ferrari et al., 2005 reported 1 in 9 (11.11%) children with a combination of progressive neurological and hepatic failure, with a heterozygous frequency of 1% of Italian controls. (Ferrari et al., 2005) 
PubMed
Alpers Found as compound W748S/E1143G. (Davidzon et al., 2005)
PubMed
PEO Compound with T251I and P587L in a 75 y.o. male  (Kollberg et al., 2005)
PubMed
Alpers Found as compound in Alpers with A467T and also in trans w/ W748 /E1143G. (Nguyen et al., 2005)
PubMed
Alpers Found as compound in Alpers with A467T in a 6 mo. female de Vries et al. , 2007 identified 1 (4.76%) children out of 21 with a POLG mutation that were known to have a mitochondrial disorder (de Vries et al., 2007)
PubMed
Alpers Found as compound with A467T in a 6 mo. female w/ liver failure and encephalopathy Not found in 250 control individuals (Horvath et al., 2006)
PubMed
Liver failure, encephalopathy, and epilepsy Found as compound with A467T in a 3 mo. male w/ liver failure and encephalopathy Not found in 200 control alleles   (Kollberg et al., 2006)
PubMed
MELAS Found w/ R627Q; heterozygous mutation; w/ mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes. (Deschauer et al., 2007)
PubMed
Alpers Found in trans with A467T, Q497H, W748S, and E1143G. Also found in trans w/ T251I-P587L. (Wong et al., 2008)
PubMed
Alpers Found in trans w/W748S, and in a 2nd pt. in trans w/A467T. (Ashley et al., 2008) and a correction in (Ashley et al., 2009)
PubMed
PEO and Ataxia In trans w/ G746S and E1143G. Also found in trans w/ A467T. Found in one child with a normal brain MRI. (Stewart et al., 2009)
PubMed
Leigh Syndrome In trans w/R232H (Taanman et al., 2008)
PubMed
Alpers In trans w/E1143G +W748S (Taanman et al., 2008)
PubMed
Alpers Found in trans w/ Q497H, W748S, and E1143G. (Brunetti-Pierri et al., 2008)
PubMed
Myopathy and gastrointestinal obstruction Found in trans w/ R227W with mtDNA depletion and Cox deficient muscle fibers (Giordano et al., 2009)
PubMed
mtDNA depletion Found in trans with A467T (Roels, et al., 2009)
PubMed
Ptosis ar, found in trans w/ T251I+P587L <0.5% in Dutch population (Blok and van den Bosch et al., 2009)
PubMed
Cerebellar ataxia, sensory neuropathy, PEO, and dysphagia Found with R627Q in a 35 yr. old patient (Schulte et al., 2009)
PubMed
Alpers Found in trans with A467T (Hasselmann et al., 2009)
PubMed
Hepatocerebral - Alpers symptoms Found in trans w/P1073L. Psychomotor delay, seizures, liver delay, and gastrointestinal dysmotility (Kurt et al., 2010)
PubMed
SANDO Found sporadically w/T251I and P587L in a 80 yr. old male (Weiss and Saneto, 2010)
PubMed
Alpers Found in trans with W748S and E1143G in a 11 mo. old with epilepsy and encephalopathy (Isohanni et al., 2011)
PubMed
Liver Diseases Found in trans w/A467T in a 2 y.o. pt. Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. (Tang et al., 2011)
PubMed
Seizures Found in trans w/ A467T in an 8 y.o. pt. with seizures, muscle weakness, hypotonia, ataxia, hearing loss, and developmentally delayed. Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. (Tang et al., 2011)
PubMed
Seizures Found in trans w/ A467T in a 1 y.o. with seizures, elevated transaminases, and increased signal basal ganglia Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. (Tang et al., 2011)
PubMed
Seizures Found in trans w/ W748S in a 5 y.o. pt. w/myclonic seizures, liver failure, and hypotonia Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. (Tang et al., 2011)
PubMed
Seizures Found in trans w/ W748S in a 7 y.o. w/ seizures and cortical blindness Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. (Tang et al., 2011)
PubMed
Found in trans w/ W748S in a 3 y.o. Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. (Tang et al., 2011)
PubMed
Found in trans w/ W748S in a 6 y.o. pt. with GI issues and irregular occipital lobe. Sibling died from VPA induced organ failure. Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. (Tang et al., 2011)
PubMed
Seizures Found as a homozygote in a 2 month old with seizures, an abnormal MRI, and abnormal respiratory enzymes. Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. (Tang et al., 2011)
PubMed
Encephalopathy Found in trans w/ R1096C in a 2 y.o. w/ hypotonia, ptosis, hepatic failure, and developmentally delayed. Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. (Tang et al., 2011)
PubMed
Failure to thrive Found in trans w/ P1073L in a 2 y.o. w/ hypotonia, and gastro-esophageal reflux. Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. (Tang et al., 2011)
PubMed
PEO Found in trans w/ T25IL and P587L in an 80 y.o. w/ ptosis, PEO, peripheral neuropathy, and abnormal muscle histology. Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. (Tang et al., 2011)
PubMed
Seizures Found in trans w/ A143V in a 4 y.o. w/ hypotonia, encephalopathy, seizures, hepatic failure, and developmentally delayed Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. (Tang et al., 2011)
PubMed
Seizures Found in trans w/ A143V in a 38 y.o. w/ ataxia, peripheral neuropathy, hearing loss, and seizures Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. (Tang et al., 2011)
PubMed
PEO Found in trans w/ c.3104+3a→t in a 63 y.o. w/ PEO, ptosis, hearing loss, muscle weakness and ragged red fibers Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. (Tang et al., 2011)
PubMed
Seizures Found in trans w/ A143V in an 8 y.o. w/ seizures and an abnormal MRI Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. (Tang et al., 2011)
PubMed
Found in trans w/ A143V in a 37 y.o. symptoms not noted Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. (Tang et al., 2011)
PubMed
Alpers Found in trans w/W748S in a 6 yr. 4 mo. with micro-vesicular fatty changes of the liver, myclonic seizures, and ataxia (Hunter et al., 2011)
PubMed
Alpers found in trans w/W7484S in a 6 yr. 9 mo. with seizures, developmentally delayed, and ataxia. (Hunter et al., 2011)
PubMed
Alpers Found in trans w/A467T in a 3 y.o. w/seizures, developmentally delayed, and ataxia (Hunter et al., 2011)
PubMed
Alpers Found in trans w/A467T in a 11 mo. old w/seizures and developmentally delayed (Hunter et al., 2011)
PubMed
Alpers Found in trans w/ A467T in a pediatric patient w/mitochondrial encephalomyopathy, seizures, ataxia, and ophthalmological involvement (Sofou et al., 2012)
PubMed
Alpers Found in trans w/A467T in a 10 mo. old female with seizures and brain stem dysfunction. History revealed that a 24 y.o. cousin died from Alpers whom harbored a homozygous A467T variant. (McCoy et al., 2011)
PubMed
Alpers and Leigh's encephalopathy Found in trans w/A467T in a 3.5 mo. old female with seizures and Alpers. Post mortem studies revealed Leigh's encephalopathy (Scalais et al., 2012)
PubMed
Optic atrophy Also found in w/ c.3104+3A>T in a 63 y.o. male with exercise intolerance, hearing loss, ptosis, and parkinsonism. (Milone et al., 2011)
PubMed
Parkinsonism Found in trans w/S1104C in a 59 y.o. male with mtDNA deletions and cerebellar ataxia (Lax et al., 2012b)
PubMed
PEO Found in trans w/G746S in a 36 y.o. male with PEO, peripheral neuropathy, and ataxia (Lax et al., 2012a)
PubMed
PEO Found in compound with T251I in a 45 yo female with mtDNA deletions Found in 160 French cohort of potential POLG patients (Rouzier et al., 2013)
PubMed
Encephalopathy Found as a heterozygous mutation with A467T in a patient with epilepsy (Tzoulis et al., 2013)
PubMed
Encephalopathy Found w/A467T in a 6 mo. child w/epilepsy and death at 6 mo. (Tzoulis et al., 2014)
PubMed
SANO (Sensory Ataxic Neuropathy and Ophthalmoparesis) Found in trans w/T251I andP587L with PEO, muscle weakness, and cognitive impairment. Similar to SANDO, but no dysarthria. (Bereau et al., 2016)
PubMed
SANDO Found in trans w/A467T with ataxia, sensory neuropathy, dysarthria, and PEO. (Bereau et al., 2016)
PubMed
Gait disturbance Found w/R627Q in a 29 y.o. female with ataxia, speech abnormalities, and swallowing abnormalities (Vogel et al., 2017)
PubMed
mild ophthalmoparesis Found in trans with R627Q in a 33 y.o. male with sensory ataxia and neuroathy (Pozzo et al., 2017)
PubMed
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