POLG Pathogenicity Prediction Server
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4 patient data entries collated from reference Sitarz et al, 2014.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupPatient ageAge of onsetAge of death
535A767D2
G737R5
Epilepsy, Myopathy.
-epilepsy
-myopathy
infantile
1n/an/a
536S1104F1
A467T2
Epilepsy, Ataxia, Myopathy.
-epilepsy
-movement disorder (ataxia)
-myopathy
childhood
5n/an/a
537W748S5
A467T2
Ataxia, neuropathy, PEO, MIRAS.
-movement disorder (ataxia)
-PEO
adult
39n/an/a
538W748S5
W748S5
Ataxia, neuropathy, PEO, MIRAS.
-movement disorder (ataxia)
-PEO
adult
36n/an/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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