POLG Pathogenicity Prediction Server
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6 patient data entries collated from reference Schicks et al, 2010.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupPatient ageAge of onsetAge of death
575W748S5
W748S5
PEO, epilepsy, early-onset cerebellar ataxia. Dysarthria, sensory neuropathy, Cerebellar atrophy.
-epilepsy
-cerebellar ataxia
-movement disorder (ataxia)
-cerebellar atrophy
-PEO
-dysarthria
adult
n/a22n/a
576G517V2
PEO, late-onset ataxia, dysarthria, ptosis, pyramidal tract signs, psychiatric disorders
-movement disorder (ataxia)
-ptosis
-PEO
-dysarthria
adult
n/a44n/a
577G517V2
early-onset ataxia, dysarthria, pyramidal tract signs, psychiatric disorders, Cerebellar atrophy, Extrapyramidal signs.
-movement disorder (ataxia)
-cerebellar atrophy
-dysarthria
adult
n/a22n/a
578R1096H3
R627Q5
early-onset ataxia, PEO, dysarthria, ptosis, sensory neuropathy, hypoacusis, cerebellar athropy.
-movement disorder (ataxia)
-ptosis
-PEO
-dysarthria
adult
n/a22n/a
579A467T2
A467T2
early-onset ataxia, epilepsy, sensory neuropathy.
-epilepsy
-movement disorder (ataxia)
childhood
n/a12.5n/a
580W748S5
W748S5
early-onset ataxia, epilepsy, sensory neuropathy.
-epilepsy
-movement disorder (ataxia)
childhood
n/a12.5n/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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