POLG Pathogenicity Prediction Server
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4 patient data entries collated from reference Del Bo et al, 2003.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupPatient ageAge of onsetAge of death
598G268A3
G268A3
PEO, complicated by dysphagia, my- opathy, neuropathy pigmentary retinopathy and amenorrhea.
-PEO
-dysphagia
adult
32n/an/a
599W312R3
W312R3
PEO, complicated by dysphagia, myopathy, sensorimotor polyneuropathy and dysphagia.
-polyneuropathy
-axonal sensorimotor polyneuropathy
-myopathy
-PEO
-dysphagia
adult
57n/an/a
600Nonsense
mutation:
R709X
T251I
P587L2
PEO, complicated by dysphagia, myopathy.
-myopathy
-PEO
-dysphagia
adult
52n/an/a
601R807P3
T251I
P587L2
PEO, complicated by dysphagia, myopathy.
-myopathy
-PEO
-dysphagia
adult
71n/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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