POLG Pathogenicity Prediction Server
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7 patient data entries collated from reference Baruffini et al, 2011.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupPatient ageAge of onsetAge of death
64R627Q5
S305R3
generalized seizures and myoclonic jerks at age 5, ataxia and sensory-axonal peripheral neuropathy onset in teen years.
-movement disorder (ataxia)
-peripheral neuropathy
childhood
255n/a
141A467T2
P625R5
Seizures onset at age 1, death via VPA induced liver failure at age 2.
-liver failure
infantile
n/a12
205Poly-Q:
expansionofapoly-Q(18Q)stretch
K947R1
adult onset PEO, premature menopause at age 15. poly 18 Q expansion in trans POLG gene.
-PEO
juvenile
n/a15n/a
658A467T2
G303R3
Alpers
-Alpers syndrome
-encephalopathy
-developmental delay
-epilepsy
infantile
n/an/a0.92
659A467T2
G303R3
Alpers
-Alpers syndrome
-encephalopathy
-developmental delay
-epilepsy
infantile
n/an/a0.42
660P1073L3
S305R3
Alpers
-Alpers syndrome
-encephalopathy
-developmental delay
-epilepsy
infantile
n/a0.752
661R386H
Alpers. Authors report that R386H not likely to be the root cause of the condition of the patient.
-Alpers syndrome
-encephalopathy
-developmental delay
-epilepsy
infantile
n/a1n/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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