POLG Pathogenicity Prediction Server
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5 patient data entries collated from reference Amiot et al, 2009.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupPatient ageAge of onsetAge of death
418R309C3
R309C3
Peripheral neuropathy, PEO, ataxia, myopathy, fatty liver, pigmentary neuropathy, strokes, epilepsy, dysarthria-dysphonia
-epilepsy
-movement disorder (ataxia)
-peripheral neuropathy
-myopathy
-PEO
-dysarthria
juvenile
n/a1422
419M919T1
A467T2
Peripheral neuropathy, PEO, ataxia
-movement disorder (ataxia)
-peripheral neuropathy
-PEO
adult
4123n/a
420W748S5
E1143G
A143V1
Peripheral neuropathy, PEO, ataxia, hearing loss, dysarthria-dysphonia, urinary tract involvement
-movement disorder (ataxia)
-peripheral neuropathy
-PEO
-dysarthria
-hearing loss
adult
4940n/a
421D1184N1
T251I
P587L2
Peripheral neuropathy, PEO, ataxia, epilepsy, fatty liver
-epilepsy
-movement disorder (ataxia)
-peripheral neuropathy
-PEO
childhood
n/a933
422D1184N1
T251I
P587L2
Peripheral neuropathy, PEO, fatty liver
-peripheral neuropathy
-PEO
childhood
n/a930

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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