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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.

To search for multiple exons, hold <Ctrl> while selecting multiple options.


Amino Acid Substitution: L304R
cDNA Position: 911 t→g (exon 4)
Disease Genetics Frequency Reference
PEO Ataxia - neuropathy ar  Compound in trans with A467T  Found as homozygous or compound in trans with W748S - E1143G in SCAE, ataxi-neuropathy Van Goethem et al., 2001 reported 0 out of 229 control Individuals (<0.4%) (Van Goethem et al., 2001)
PubMed
PEO Ataxia - neuropathy ar  Compound in trans with A467T  Found as homozygous or compound in trans with W748S - E1143G in SCAE, ataxi-neuropathy Not found in 300 healthy French control chromosomes (Naimi et al., 2006)
PubMed
PEO Ataxia - neuropathy ar  Compound in trans with A467T  Found as homozygous or compound in trans with W748S - E1143G in SCAE, ataxic-neuropathy ( Stuart et al., 2006)
PubMed
Alpers Found homozygous in one pt. (Ashley et al., 2008) and a correction in (Ashley et al., 2009)
PubMed
Alpers Found in trans w/ L392V and R1081dup. (Cardenas et al., 2010)
PubMed
VPA induced liver toxicity Found in trans with A467T in a 15 y.o. pt. with VPA induced hepatotoxicity Used 968 alleles ethnically matched controls (Stewart et al., 2010)
PubMed
Peripheral neuropathy Found as a homozygote in a 23 y.o. pt. with exercise intolerance, 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/ D1145GfsX9 in a developmentally delayed 12 y.o. with seizures and hypotonia. Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. (Tang et al., 2011)
PubMed
PEO Found in trans w/ G737R in a 54 y.o. w/PEO, ptosis, and muscle weakness Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. (Tang et al., 2011)
PubMed
PEO Found as a homozygote in a 12 y.o. w/ PEO, ptosis, neuropathy, and developmentally delayed. Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. (Tang et al., 2011)
PubMed
PEO Found as a homozygote in a 9 y.o. with PEO, neuropathy, ptosis, and COX deficient fibers. 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 y.o. pt. w/ encephalopathy, seizures, and developmentally delayed. Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. (Tang et al., 2011)
PubMed
PEO Found in trans w/ A143V in a 22 y.o. pt. with PEO and cerebral cavernous malformation. Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. (Tang et al., 2011)
PubMed
PEO Found as a homozygote in a 9 y.o. with ptosis, ataxia, hypotonia, and cerebellar atrophy. Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. (Tang et al., 2011)
PubMed
Seizures Found has a homozygote in a 4 y.o. w/ seizures, ptosis, and an abnormal MRI. Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. (Tang et al., 2011)
PubMed
PEO Found as a homozygote in a 10 y.o. w/ ptosis, PEO, ataxia, and muscle weakness Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. (Tang et al., 2011)
PubMed
Found in trans w/ A467T in a 15 y.o. symptoms not noted Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. (Tang et al., 2011)
PubMed
Seizures Found in trans w/ R1081dup in a 1 y.o. w/seizures and developmentally delayed Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. (Tang et al., 2011)
PubMed
PEO Found in trans w/ R1081P in a 10 y.o. w/ ataxia, seizures, PEO, and dystonia Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. (Tang et al., 2011)
PubMed
Alpers Found in trans w/G888D in a patient showing psychomotor retardation, epileptic encephalopathy, progressive cerebral atrophy, and altered liver enzymes. 2 of 52 pediatric patients suspected to have mitochondrial DNA depletion syndrome (Navarro-Sastre et al., 2012)
PubMed
Alpers Found in trans w/Y282D in a patient with intractable convulsions and severe epileptic status. 2 of 52 pediatric patients suspected to have mitochondrial DNA depletion syndrome (Navarro-Sastre et al., 2012)
PubMed
SANDO Found as a homozygous mutation in a 15 yo male with 40% COX neg muscle fibers and multiple mtDNA deletions Found in 160 French cohort of potential POLG patients (Rouzier et al., 2013)
PubMed
PEO Found in compound with W748S in a 27 yo female with sensory and cerebellar ataxia, axonal sensory neuropathy Found in 160 French cohort of potential POLG patients (Rouzier et al., 2013)
PubMed
PEO Found in trans w/c.1713-21 in a 23 y.o.with PEO, ataxia, and myopathy. In a study that suggests that dopaminergic neurons are vulnerable to the accumulation of somatic mtDNA damage, and defects of mtDNA replication and repair. (Tzoulis et al., 2016)
PubMed
SCAE Found in trans w/W748S with PEO, cognitive impairment, seizures, ataxia, polyneuropathy, dysphagia, and dysarthria. (Bereau et al., 2016)
PubMed
SANDOS Found as a homozygous mutation w/ multiple complex deficiencies in a child from South India (Sonam et al., 2017)
PubMed
Ataxia neuropathy Found as a homozygous mutation w/ multiple complex deficiencies in a child from South India (Sonam et al., 2017)
PubMed
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