POLG Pathogenicity Prediction Server
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1 patient data entry collated from reference Vasta et al, 2012.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupPatient ageAge of onsetAge of death
349R852C1
G11D
W748S5
E1143G
PEO, alpers disease, ataxia, seizure, hypotonia, developemental delay,
-movement disorder (ataxia)
-PEO
-hypotonic
-Alpers syndrome
-encephalopathy
-developmental delay
-epilepsy
infantile
n/a0.001n/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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