POLG Pathogenicity Prediction Server
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3 patient data entries in database for mutations G11D and A467T.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupAge of onsetAge of patientAge of deathReference
80G11D
R852C1
A467T2
Alpers, seizures, abnormal liver function, mild lactic acidosis, normal histology of COX fibers.
-lactic acidosis
-Alpers syndrome
-encephalopathy
-developmental delay
-epilepsy
infantile
1.25n/an/aStewart et al, 2009;

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109R852C1
G11D
A467T2
Seizures, myoclonic seizures, intractable seizures, hepatic failure, elevated transaminases, Apnes/Hypoventilation, respiratory deficiency/failure, lactic acidosis, organic aciduria/tiglyglycine, low plasma carnitine, abnormal EEG. 108% mtDNA copy number in blood.
-lactic acidosis
-myoclonic seizures
-intractable seizure
-liver failure
-respiratory deficiency
infantile
n/a0.8n/aTang et al, 2011;

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188A467T2
R852C1
G11D
reported as Alpers, onset at 2 years, presenting encephalopathy with epilepsy, hepatopathy. 22% mtDNA copy number in muscle.
-epilepsy
-encephalopathy
-Alpers syndrome
-developmental delay
infantile
2.25n/an/aAshley et al, 2008;

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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: 3
Avg age of onset in displayed cases: 1.4
Std dev in onset in displayed cases: 0.6

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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