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All inquiries, additions to the list, and comments should be made to Bill Copeland.
Amino Acid Substitution: S305R
cDNA Position: 915 c→g (exon 4)
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Disease | Genetics | Frequency | Reference |
Alpers | heterozygous | (Wong et al., 2008) PubMed |
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Alpers | Found in trans w/A467T | <0.5% in Dutch population | (Blok and van den Bosch et al., 2009) PubMed |
Alpers | Found as a compound heterozygote w/P1073L. | (Baruffini et al., 2011) PubMed |
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Epilepsy and ataxia-neuropathy | Heterozygous mutation w/R627Q found in a 5 y.o. pt. w/epilepsy at age 5, and developed ataxia and neuropathy in his teens. | (Baruffini et al., 2011) PubMed |
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Liver Failure | Found in trans w/ A467T in a 1 y.o. with liver failure | Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. | (Tang et al., 2011) PubMed |
Alpers | Found in trans w/A467T in a 3 y.o. w/seizures and developmentally delayed | (Hunter et al., 2011) PubMed |