POLG Pathogenicity Prediction Server
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11 patient data entries collated from reference Tzoulis et al, 2013.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupPatient ageAge of onsetAge of death
460A467T2
A467T2
Epilepsy, stroke-like episodes, ataxia, peripheral neuropathy, progressive external ophthalmoplegia (PEO).
-epilepsy
-movement disorder (ataxia)
-peripheral neuropathy
-PEO
-ophthalmoplegia
-external ophthalmoplegia
-stroke
-stroke-like episodes
juvenile
n/a1653
461A467T2
A467T2
Epilepsy, ataxia, peripheral neuropathy, progressive external ophthalmoplegia (PEO).
-epilepsy
-movement disorder (ataxia)
-peripheral neuropathy
-PEO
-ophthalmoplegia
-external ophthalmoplegia
juvenile
4215n/a
462W748S5
W748S5
Epilepsy, stroke-like episodes, ataxia, peripheral neuropathy, progressive external ophthalmoplegia (PEO).
-epilepsy
-movement disorder (ataxia)
-peripheral neuropathy
-PEO
-ophthalmoplegia
-external ophthalmoplegia
-stroke
-stroke-like episodes
childhood
n/a641
463W748S5
W748S5
Epilepsy, stroke-like episodes, ataxia, peripheral neuropathy, progressive external ophthalmoplegia (PEO).
-epilepsy
-movement disorder (ataxia)
-peripheral neuropathy
-PEO
-ophthalmoplegia
-external ophthalmoplegia
-stroke
-stroke-like episodes
juvenile
n/a1743
464W748S5
W748S5
Epilepsy, stroke-like episodes, ataxia, peripheral neuropathy.
-epilepsy
-movement disorder (ataxia)
-peripheral neuropathy
-stroke
-stroke-like episodes
juvenile
3417n/a
465W748S5
W748S5
Ataxia, peripheral neuropathy, progressive external ophthalmoplegia (PEO).
-movement disorder (ataxia)
-peripheral neuropathy
-PEO
-ophthalmoplegia
-external ophthalmoplegia
childhood
4512n/a
466W748S5
W748S5
Epilepsy, stroke-like episodes, ataxia, peripheral neuropathy, progressive external ophthalmoplegia (PEO).
-epilepsy
-movement disorder (ataxia)
-peripheral neuropathy
-PEO
-ophthalmoplegia
-external ophthalmoplegia
-stroke
-stroke-like episodes
childhood
n/a1228
467W748S5
W748S5
Epilepsy, stroke-like episodes, ataxia, peripheral neuropathy, progressive external ophthalmoplegia (PEO).
-epilepsy
-movement disorder (ataxia)
-peripheral neuropathy
-PEO
-ophthalmoplegia
-external ophthalmoplegia
-stroke
-stroke-like episodes
juvenile
n/a1624
468W748S5
A467T2
Ataxia, peripheral neuropathy, progressive external ophthalmoplegia (PEO).
-movement disorder (ataxia)
-peripheral neuropathy
-PEO
-ophthalmoplegia
-external ophthalmoplegia
adult
5836n/a
469W748S5
A467T2
Ataxia, peripheral neuropathy, progressive external ophthalmoplegia (PEO).
-movement disorder (ataxia)
-peripheral neuropathy
-PEO
-ophthalmoplegia
-external ophthalmoplegia
adult
5024n/a
470G848S1
A467T2
Epilepsy, stroke-like episodes.
-epilepsy
-stroke
-stroke-like episodes
infantile
n/a0.60.6

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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