POLG Pathogenicity Prediction Server
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3 patient data entries collated from reference Hudson et al, 2006.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupPatient ageAge of onsetAge of death
595E1143G
S433C1
PEO, ataxia, peripheral neuropathy, and episodes of encephalopathy. Asymptomatic mother had also S433C.
-movement disorder (ataxia)
-peripheral neuropathy
-PEO
-encephalopathy
unknown
n/an/an/a
596Nonsense
mutation:
Y452X
PEO, proximal weakness, and dysphagia and was heterozygous for (Y452X).
-PEO
-dysphagia
-proximal weakness
unknown
n/an/an/a
597Nonsense
mutation:
Y452X
PEO and distal weakness.
-PEO
unknown
n/an/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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