POLG Pathogenicity Prediction Server
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3 patient data entries collated from reference Bindu et al, 2016.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupPatient ageAge of onsetAge of death
678L304R3
SANDO syndrome, Sensory motor demyelinating neuropathy
-demyelinating neuropathy
childhood
10n/an/a
679L304R3
CPEO, Sensory motor axonal neuropathy
-demyelinating neuropathy
-PEO
adult
26n/an/a
680L304R3
Mitochondrial spinocerebellar ataxia epilepsy syndrome, motor axonal neuropathy
-epilepsy
-cerebellar ataxia
-movement disorder (ataxia)
-demyelinating neuropathy
childhood
6n/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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