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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: Y955C
cDNA Position: 2864 a→g (exon 18)
Disease Genetics Frequency Reference
PEO ad PEO in a family w/ mtDNA deletions absent in 432 control chromosomes (Van Goethem et al., 2001)
PubMed
PEO Found as a heterozygous mutation in 3 Belgian families w/ PEO Lamantea, 2002: Not found in a control group of 100 DNA samples from unrelated Italians  (Lamantea et al., 2002)
PubMed
PEO ad PEO. Studied the pathological and biochemical consequences of several PEO mutations by modeling the amino acid changes and structure pol _. In order to correlate mutation and disease severity. (Graziewicz et al., 2004)
PubMed
Parkinsonism Premature ovarian failure Alzheimer's disease Most severe autosomal dominant mutation in POLG, drastically lowers polymerase catalysis, promotes stalling and errors in replication. Luoma, 2004: None noted in screening of 1640 healthy Finnish control chromosomes. ( Luoma et al., 2004)
PubMed
PEO and Premature ovarian failure Found as a heterozygous and homozygous mutation in 3 generations of women in the same family with Premature ovarian failure and PEO. Also found in trans w/Q1236H. (Pagnamenta et al., 2006)
PubMed
PEO Studied recombinant protein and found that the Y955C POLG enzyme cause error-prone DNA synthesis (Ponamarev et al., 2002)
PubMed
PEO Demonstrate that S. cerevisiae provides a useful in vivo system for quickly evaluating the biological consequences of identified, or suspected, PEO mutation loci. (Stuart et al., 2006)
PubMed
PEO Studied the yeast homologue that had mtDNA depletion and deletions with altered dNTP pools (Baruffini et al., 2006)
PubMed
PEO Studied 4 pts. with adPEO and that were heterozygous for Y955C which revealed a low instance of mtDNA point mutations. (Kollberg et al., 2005)
PubMed
PEO Y955C POLG was targeted transgenically to the murine heart. The mice had cardiomyopathy and mtDNA depletion. (Lewis et al., 2007)
PubMed
PEO/Alzheimer's Myopathy, COX deficient muscle fibers, and mtDNA depletion found in 2 siblings who developed Alzheimer's and thought to have aged prematurely. (Melberg et al., 2005)
PubMed
Found as a heterozygous mutation w/ hearing loss, failure to thrive, generalized ETC complex deficiency (Wong et al., 2008)
PubMed
PEO Found in cis w/ G517V in a 47 y.o. w/ PEO, ptosis, myopathy, and neuropathy Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. (Tang et al., 2011)
PubMed
PEO Found as a heterozygous mutation in a 45 y.o. w/ myopathy and PEO Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. (Tang et al., 2011)
PubMed
Found in a Chinese population with Parkinsonism at an allelic frequency of 0.816 344 Chinese parkinson patients and 144 controls (Gui et al., 2012)
PubMed
PEO and Parkinsonism Found as heterozygous mutations in siblings in Japan (Mukai et al., 2013)
PubMed
PEO and infertility Found as a heterozygous dominate mutation in a patient with PEO and ovarian failure with mtDNA deletions,and COX negative muscle fibers (Siibak et al., 2017)
PubMed
Ptosis and ophthalmoparesis Found as a heterozygous mutation in a 45 y.o. female with ataxia (Vogel et al., 2017)
PubMed
Ptosis and ophthalmoparesis Found as a heterozygous mutation in a 29 y.o. male with a speech abnormalities, and swallowing abnormalities (Vogel et al., 2017)
PubMed
Ptosis and ophthalmoparesis Found as a heterozygous mutation in a 26 y.o. male with a speech abnormalities, and swallowing abnormalities (Vogel et al., 2017)
PubMed
PEO and Parkinsonism Found as a heterozygous mutation in a 59 y.o. female with parkinsonism, diabetes, hearing loss, and cortical atrophy. Patient was positive for mtDNA deletions. (Pozzo et al., 2017)
PubMed
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