POLG Pathogenicity Prediction Server
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6 patient data entries in database for mutations R852C 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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264R852C1
A467T2
Alpers
-Alpers syndrome
-encephalopathy
-developmental delay
-epilepsy
unknown
n/an/an/aNguyen et al, 2006;

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321R852C1
A467T2
Myoclonic Seizures, visual disturbance, motor paresis, Focal motor seizures, Epilepsia partialis continua, Developmental Delay or Regression, ataxia, Serum Lactate, liver mtDNA depletion, Alpers
-myoclonic seizures
-epilepsia partialis
-movement disorder (ataxia)
-developmental delay
-Alpers syndrome
-encephalopathy
infantile
1.33n/a5.08Hunter et al, 2011;

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329R852C1
A467T2
clonic seizures of the right arm and leg, Coma persisted and was accompanied by hypoglycaemia, tachycardia and oliguria, CSF proteinwas elevated, cortical blindness, anarthria and profound hypotonia, Liver dysfunction, prolonged focal seizures, acute encephalopathy,
-focal seizures
-liver dysfunction
-hypotonic
-encephalopathy
-cortical blindness
infantile
1.75n/a3.5McCoy 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: 6
Avg age of onset in displayed cases: 1.5
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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