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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: T914P
cDNA Position: 2740 a→c (exon 18)
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| Disease | Genetics | Frequency | Reference |
| Alpers | Found in trans with A467T. | Not found in 300 control chromosomes | (Nguyen et al., 2006) PubMed |
| Encephalopathy | Found in trans with A467T in an 8 y.o. male w/encephalopathy and myoclonus . | Not found in 250 control individuals | (Horvath et al., 2006) PubMed |
| Alpers | Found in trans with A467T in a 7 mo. female w/ Alpers | Not found in 300 healthy French control chromosomes |
(Naimi et al., 2006) PubMed |
| Alpers | Found in trans w/ A467T | (Wong et al., 2008) PubMed |
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| adPEO | Heterozygous, Ptosis, exercise intolerance, fatigue, ragged red fibers | (Wong et al., 2008) PubMed |
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| Alpers | Found in trans w/R1096C, and in a 2nd pt. found in trans w/R627W. Also found in trans w/A467T in 2 other pts. Found in 2 additional pts. in trans w/W748S. | (Ashley et al., 2008) and a correction in (Ashley et al., 2009) PubMed |
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| Alpers | In trans w/ A467T | (Taanman et al., 2008) PubMed |
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| Epilepsy, myoclonic, and developmental delay | ar, Found as a compound heterozygous mutation w/ A467T | <0.5% in Dutch population | (Blok and van den Bosch et al., 2009) PubMed |
| Epilepsy | Found heterozygous with A467T in a 10 mo. old male with myoclonic seizures and jerks, and developmental regression. | (Dhamija et al., 2011) PubMed |
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| Alpers | Found in trans with E1143G and W748S in a 2.5 y.o. with epilepsy and encephalopathy | 7 of 136 mitochondrial disease Finnish children, and screened against 370 control DNA samples | (Isohanni et al., 2011) PubMed |
| Seizures | Found in trans w/ A467T in a 3 y.o. w/ seizures, hypotonia, encephalopathy, and developmentally delayed | Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. | (Tang et al., 2011) PubMed |
| Seizures | Found in trans w/ W748S in a 5 y.o. w/ seizures | Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. | (Tang et al., 2011) PubMed |
| Seizures | Found in trans w/ A467T in a 5 y.o. w/ seizures, hearing loss, and developmentally delayed. | Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. | (Tang et al., 2011) PubMed |
| Seizures | Found in trans w/ W748S in an 8 mo. w/ seizures, hypotonia, abnormal MRI, and developmentally delayed. | Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. | (Tang et al., 2011) PubMed |
| Seizures | Found in trans w/ A467T in a 9 mo. w/ seizures, hypotonia, and developmentally delayed | Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. | (Tang et al., 2011) PubMed |
| Seizures and liver failure | Found in trans w/ A467T in a 4 y.o. with liver failure, seizures, and failure to thrive | Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. | (Tang et al., 2011) PubMed |
| Seizures | Found in trans w/ A467T in an 8 mo. w/ seizures, respiratory failure, and an abnormal MRI | Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. | (Tang et al., 2011) PubMed |
| MSCAE | Found in trans w/ W748S in a 15 y.o. female with mitochondrial spinocerebellar ataxia and epilepsy. | (Hinnell et al., 2012) PubMed |
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| Alpers | Found in compound with A467T in a 15 month female with mtDNA depletion | Found in 160 French cohort of potential POLG patients | (Rouzier et al., 2013) PubMed |
| Epilepsy | Found in compound with W748S in a 6 yo male with epilepsy and hepatic cholestasis and cytolysis, and mtDNA deletions | Found in 160 French cohort of potential POLG patients | (Rouzier et al., 2013) PubMed |
| PEO | Found in compound with the intronic mutation C3104+3A>T in a 37 y.o. male with PEO. Myopathy, dysphagia, and muscle weakness developed by age 55. Pt.'s older brother was diagnosed with PEO at age 65, and pt.'s adult daughters are not affected. Pt. had C | (Roos et al., 2013) PubMed |
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| Alpers | Found in trans with A467T in one baby | (Hayhurst et al., 2019) PubMed |
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| Myopathy, PEO, and Ptosis | Found as compound heterozygous in trans with F197S in a 69 year-old man with slowly progressive bilateral ptosis and severely reduced horizontal and vertical gaze. | ( Hedberg-Oldfors et al., 2020) PubMed |
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| MDS | Found in a large cohort study. | (Hikmat et al., 2020) PubMed |
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| Epilepsy | Found in a cross-sectional study of 22676 genetic variants associated with epilepsy | (SoRelle et al., 2020) PubMed |
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