POLG Pathogenicity Prediction Server
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4 patient data entries collated from reference Davidzon et al, 2005.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupPatient ageAge of onsetAge of death
237W748S5
E1143G
G848S1
hepatocerebral syndrome, alpers, developmental delay, seizures, and hepatopathy leading to liver failure, liver mtDNA depletion, microvesicular steatosis.
-liver failure
-hepatocerebral
-developmental delay
-Alpers syndrome
-encephalopathy
-epilepsy
infantile
n/a0.10.9
252W748S5
E1143G
G848S1
hepatocerebral syndrome, alpers, developmental delay, seizures, and hepatopathy leading to liver failure, liver mtDNA depletion
-liver failure
-hepatocerebral
-developmental delay
-Alpers syndrome
-encephalopathy
-epilepsy
infantile
n/a0.72.5
253W748S5
E1143G
G848S1
hepatocerebral syndrome, alpers, developmental delay, seizures, and hepatopathy leading to liver failure, liver mtDNA depletion, microvesicular steatosis,
-liver failure
-hepatocerebral
-developmental delay
-Alpers syndrome
-encephalopathy
-epilepsy
infantile
n/a16.5
255W748S5
E1143G
G848S1
hepatocerebral syndrome, alpers, developmental delay, seizures, and hepatopathy leading to liver failure, microvesicular steatosis, fibrosis
-liver failure
-hepatocerebral
-developmental delay
-Alpers syndrome
-encephalopathy
-epilepsy
infantile
n/a0.31

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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