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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.

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


Amino Acid Substitution: R232H
cDNA Position: 695 g→a (exon 3)
Disease Genetics Frequency Reference
Liver failure, encephalopathy, and epilepsy Found as compound in trans with W748S - E1143G Not found in 200 control alleles (Kollberg et al., 2006)
PubMed
Charcot-Marie Tooth disease, (CMT) (profound cerebellar ataxia) Found in cis with the S64L SNP and in trans with G737R Not detected in 282 control alleles (Harrower et al, 2008)
PubMed
Amino Acid Substitution: R232H
cDNA Position: 697 g→a (exon 3)
Disease Genetics Frequency Reference
Leigh Syndrome In trans w/G848S (Taanman et al, 2008)
PubMed
Amino Acid Substitution: R232H
cDNA Position: 695 g→a (exon 3)
Disease Genetics Frequency Reference
Infantile hepatocerebral Found in trans w/A467T and in cis w/H277L in a 2 mo. mold w/hypotonia, motor paresis and developmentally delayed (Hunter et al., 2011)
PubMed
Amino Acid Substitution: R232H
cDNA Position: 697 g→a (exon 3)
Disease Genetics Frequency Reference
Infantile hepatocerebral Found in trans w/A467T and in cis w/H277L in a 1.5 mo. old w/hypotonia and developmentally delayed (Hunter et al., 2011)
PubMed
Infantile hepatocerebral Found W748S and E1143G w/ A467T in a pediatric patient w/mitochondrial encephalomyopathy, seizures, ataxia, and ophthalmological involvement (Sofou et al., 2012)
PubMed
Parkinsonism Found as a heterozygous mutation in a 25 yo male with sensorimotor neuropath, ataxia, and mtDNA deletions Found in 160 French cohort of potential POLG patients (Rouzier et al., 2013)
PubMed
Sensorimotor neuropathy Found as a heterozygous mutation in a 30 yo female with axonal sensorimotor neuropathy Found in 160 French cohort of potential POLG patients (Rouzier et al., 2013)
PubMed
Sensorimotor neuropathy Found as a heterozygous mutation in a 20 yo female with sensorimotor neuropath ,and ataxia Found in 160 French cohort of potential POLG patients (Rouzier et al., 2013)
PubMed
SANDO Found in trans w/T251I/P587L and in cis w/H277L in a 26 y.o. with PEO, cognitive impairment, ataxia, polyneuropathy, muscle weakness, migraines, dysphagia, and dysarthria. (Bereau et al., 2016)
PubMed
SANDO Found in trans w/T251I and P587L and in cis w/H277L in a 40 y.o. with PEO, ataxia, polyneuropathy, and dysarthria. (Bereau et al., 2016)
PubMed
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