POLG Pathogenicity Prediction Server
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5 patient data entries collated from reference Di Fonzo et al, 2003.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupPatient ageAge of onsetAge of death
45R807P3
T251I
P587L2
PEO
-PEO
adult
4746n/a
46R807P3
T251I
P587L2
PEO, dysphagia
-PEO
-dysphagia
adult
5245n/a
47R807P3
T251I
P587L2
PEO, axonal sensorimotor polyneuropathy
-polyneuropathy
-axonal sensorimotor polyneuropathy
-PEO
adult
7160n/a
69W312R3
W312R3
PEO, sensory-motor polyneuropathy, dysphagia.
-polyneuropathy
-sensomotor neuropathy
-PEO
-dysphagia
adult
n/a57n/a
234A467T2
G268A3
PEO, age of onset 65 years.
-PEO
adult
n/a65n/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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