POLG Pathogenicity Prediction Server
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3 patient data entries collated from reference Tzoulis et al, 2010.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupPatient ageAge of onsetAge of death
52A467T2
G303R3
Encephalopathy with epilepsy, and liver disease.
-epilepsy
-liver dysfunction
-encephalopathy
infantile
n/a0.91.1
53A467T2
G303R3
Encephalopathy with epilepsy, and liver disease.
-epilepsy
-liver dysfunction
-encephalopathy
infantile
n/a11.4
54A467T2
G303R3
Encephalopathy with epilepsy, ataxia.
-epilepsy
-movement disorder (ataxia)
-encephalopathy
infantile
n/a28

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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