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All inquiries, additions to the list, and comments should be made to Bill Copeland.
Amino Acid Substitution: P1073L
cDNA Position: 3218 c→t (exon 20)
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Disease | Genetics | Frequency | Reference |
Hepatocerebral - Alpers symptoms | Found in trans w/A467T in 2 pt., in trans w/ W748S in 1 pt., and in trans with G848S in 1 pt. Psychomotor delay, seizures, liver delay, and gastrointestinal dysmotility. | (Kurt et al., 2010) PubMed |
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Alpers | Found as a compound heterozygote w/ S305R in a 9 mo. pt. w/ Alpers | (Baruffini et al., 2011) PubMed |
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Failure to thrive | Found in trans w/ G848S in a 2 y.o. w/ hypotonia, and gastro-esophageal reflux. | Found in a cohort of 2697 patients with suggestive clinical presentations of POLG deficiencies. | (Tang et al., 2011) PubMed |
Myopathy | Found as a heterozygous mutation in a 5 yo female with epilepsy, myopathy, and tubulopathy | Found in 160 French cohort of potential POLG patients | (Rouzier et al., 2013) PubMed |