POLG Pathogenicity Prediction Server
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8 patient data entries in database for mutations A467T and G303R.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupAge of onsetAge of patientAge of deathReference
52A467T2
G303R3
Encephalopathy with epilepsy, and liver disease.
-epilepsy
-liver dysfunction
-encephalopathy
infantile
0.9n/a1.1Tzoulis et al, 2010;

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53A467T2
G303R3
Encephalopathy with epilepsy, and liver disease.
-epilepsy
-liver dysfunction
-encephalopathy
infantile
1n/a1.4Tzoulis et al, 2010;

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54A467T2
G303R3
Encephalopathy with epilepsy, ataxia.
-epilepsy
-movement disorder (ataxia)
-encephalopathy
infantile
2n/a8Tzoulis et al, 2010;

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544G303R3
A467T2
Psychomotor deterioration, hypotonia, spasticity, Stroke-like episodes, Refractory seizures, Epilepsia Partialis Continua, Status Epilepticus, Myoclonus, severe hepatic dysfunction,
-status epilepticus
-myoclonic seizures
-intractable seizure
-epilepsia partialis
-spasticity
-stroke
-hypotonic
-stroke-like episodes
infantile
0.916n/an/aSofou et al, 2012;

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557G303R3
A467T2
Epilepsy, stroke-like episode.
-epilepsy
-stroke
infantile
0.9n/a1.1Tzoulis et al, 2014;

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558G303R3
A467T2
Epilepsy, stroke-like episode, Ataxia.
-epilepsy
-movement disorder (ataxia)
-stroke
infantile
2n/a8Tzoulis et al, 2014;

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658A467T2
G303R3
Alpers
-Alpers syndrome
-encephalopathy
-developmental delay
-epilepsy
infantile
n/an/a0.92Baruffini et al, 2011;

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659A467T2
G303R3
Alpers
-Alpers syndrome
-encephalopathy
-developmental delay
-epilepsy
infantile
n/an/a0.42Baruffini et al, 2011;

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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.

Number of displayed patient cases: 8
Avg age of onset in displayed cases: 1.1
Std dev in onset in displayed cases: 0.5

Search criteria for patient entries:
Mutations Entry IDs Clusters Reference Residue range
Mutations:
Allele 1:Allele 2:
Separate multiple mutations with commas.
Use "PNF" for non-missense mutations.
Match: Inclusive Exact
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