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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: Y831C
cDNA Position: 2492 a→g (exon 16)
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| Disease | Genetics | Frequency | Reference |
| Epilepsy, exericise intolerance, and hearing loss | Found in a 6 y.o. female with mtDNA deletions in muscle tissue. The patient, her mother and her grand mother, but not her sister, had a heterozygote Y831C mutation. | Analysis by mispairing PCR showed the pres- ence of mutation Y831C in 57% of 87 controls. | (Barthelemy et al., 2002) PubMed |
| PEO, neuropathy, and parkinsonism | Found as a heterozyous mutation in a 49 y.o woman with parkinsonism, PEO, and mtDNA deletions. Her 59 y.o. brother was heterozygous for Y831C with overt parkinsonian features. | Mancuso 2004: Not seen in 120 control subjects | (Mancuso et al., 2004b) PubMed |
| The allelic discrimination technology proposed here for the identification of the mutation causing the Y831C substitution is amenable to high-throughput genotyping an thus is well suited to both extensive population studies and molecular diagnostics. | Stopinska 2006: present in the Polish population at a frequency of 2.25%. | (Stopinska et al., 2006) PubMed |
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| Neutral polymorphism | Studied POLG1 in 140 UK patients with idiopathic Parkinson disease (PD) and 279 Italian patients with PD and compared them to a UK control group (n = 207) and an Italian control group (n = 285). Our observations do not support a role for common POLG1 gene | Tiangyou 2006: Found at the same frequency in age-matched controls. | (Tiangyou et al., 2006) PubMed |
| Neutral polymorphism | Found several amino acid substitutions, none of them associating with PD. These included a previously parkinsonism-associated POLG variant Y831C, found in one patient with PD, but also in five controls, suggesting that it is a neutral amino acid polymorph | The coding region of POLG1 was analyzed in 140 Finnish patients with PD and their 127 spouses as age- and ethnically matched controls. | (Luoma et al., 2007) PubMed |
| Heterozygous, hypotonia, Autism, neuropathy, ataxia, hearing loss, short stature, muscle weakness, fatigue | (Wong et al., 2008) PubMed |
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| mtDNA depletion | In trans w/ H1134R | (Taanman et al., 2008) PubMed |
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| mtDNA deletions and seizures | Heterozygous mutation found in a 34 y.o. woman with seizures, opthalmoparesis, ptosis,, peripheral neuropathy….. | 2 in 322 mitochondrial disease patients | (Woodbridge et al., 2012) PubMed |
| Muscle weakness | Heterozygous mutation found in a 46 y.o. woman with proximal weakness and myagia, and muscle twitches. | 2 in 322 mitochondrial disease patients | (Woodbridge et al., 2012) PubMed |
| Found in a Chinese population with Parkinsonism at an allelic frequency of 0.034 | 344 Chinese parkinson patients and 144 controls | (Gui et al., 2012) PubMed |
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| MDS | Found in a large cohort study. | (Hikmat et al., 2020) PubMed |
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