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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: R1096C
cDNA Position: 3286 c→t (exon 21)
Disease Genetics Frequency Reference
PEO Sporadic or ar in PEO Agostino 2003: Not found in 250 individuals (Agostino et al., 2003)
PubMed
Alpers Found in trans with P648R in PEO-myopathy. Found as homozygous mutation with Q1236H in Alpers Not found in 250 control individuals (Horvath et al., 2006)
PubMed
Alpers Found as compound w/ Q1236H . (Wong et al., 2008)
PubMed
Alpers Found in trans w/T914P, and homozygous in a 2nd pt. (Ashley et al., 2008) and a correction in (Ashley et al., 2009)
PubMed
Cerebellar ataxia, sensory neuropathy, PEO, and dysphagia Found with R627Q in a 43 yr. old patient (Schulte et al., 2009)
PubMed
Seizures Found as a homozygote in an 8 mo. old pt. with encephalopathy and seizures. 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 1 y.o. with seizures and liver failure. Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. (Tang et al., 2011)
PubMed
Encephalopathy Found in trans w/ G848S 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
Seizures Found as a homozygote in a 2 y.o. w/ seizures, lactic acidosis and developmentally delayed. Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. (Tang et al., 2011)
PubMed
SANDO Found in trans w/L591F in a 48 y.o. female with SANDO and dysphagia. (Kurt et al. 2012)
PubMed
PEO Found in trans w/ W748S in a 49 y.o. male with PEO, ptosis, epilepsy and peripheral neuropathy (Lax et al., 2012a)
PubMed
PEO Found in trans w/A467T in a 42 y.o. male with PEO, ptosis and sensory neuropathy (Lax et al., 2012a)
PubMed
Alpers Found in trans with W748S in one baby (Hayhurst et al., 2019)
PubMed
MDS Found in a large cohort study. (Hikmat et al., 2020)
PubMed
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