POLG Pathogenicity Prediction Server
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2 patient data entries collated from reference Brinjikji et al, 2011.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupPatient ageAge of onsetAge of death
314A467T2
A467T2
Elevated CSF protein, occipital stroke, visual field deficit, peripheral neuropathy, migraine, epilepsy, ataxia, myoclonus, progressive gait ataxia, ophthalmoplegia, dysarthria, dysphagia, valproate induced encephalopathy and depression
-myoclonic seizures
-epilepsy
-movement disorder (ataxia)
-peripheral neuropathy
-ophthalmoplegia
-stroke
-headache/ migraine
-encephalopathy
-dysphagia
-dysarthria
juvenile
3918n/a
315A467T2
A467T2
Hospitalized at age 7 for headache, fever, lethargy, and seizures, Elevated CSF protein, occipital stroke, visual field deficit, peripheral neuropathy, migraine, epilepsy, The patient began valproate therapy at age 11 and suffered hepatic encephalopathy which resolved after carnitine therapy.
-epilepsy
-peripheral neuropathy
-stroke
-headache/ migraine
-encephalopathy
childhood
287n/a

1-5 pathogenic cluster assignment of mutations. Mutations displayed without a superscript number are outside of the assigned pathogenic clusters. See cluster definitions for details.

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