POLG Pathogenicity Prediction Server
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8 patient data entries in database for mutations R1096C and R1096C.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupAge of onsetAge of patientAge of deathReference
223R1096C3
R1096C3
Seizures, liver failure.
-liver failure
infantile
n/a1n/aTang et al, 2011;

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224R1096C3
R1096C3
Developmental delay, seizure, lactic acidosis, elevated transaminases. 50% mtDNA copy number in blood.
-lactic acidosis
-developmental delay
infantile
n/a2n/aTang et al, 2011;

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225R1096C3
R1096C3
Seizures, dementia/encephalopathy. 56% mtDNA copy number in blood.
-encephalopathy
-dementia
infantile
n/a0.8n/aTang et al, 2011;

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226R1096C3
Q1236H
R1096C3
Q1236H
Onset at 2 years with encephalopathy, hepatopathy, and myoclonus achalasia. Diagnosed as Alpers.
-myoclonic seizures
-encephalopathy
-Alpers syndrome
-developmental delay
-epilepsy
infantile
2n/an/aHorvath et al, 2006;

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477R1096C3
R1096C3
altered sensorium, seizures (requiring ventilation and critical-care management), hypotonia and mild hepatomegaly. Child deteriorated rapidly because of liver failure and died within two weeks of admission. Mainly hepatic failure and central nervous system (CNS) involvement (encephalopathy, seizures), high plasma lactate levels – and family history, a clinical diagnosis of mitochondrial disorder of the mtDNA depletion (Alpers – Huttenlocher syndrome or Pyruvate carboxylase deficiency) was made. mtDNA depletion syndrome.
-liver failure
-hypotonic
-encephalopathy
-Alpers syndrome
-hepatomegaly
-developmental delay
-epilepsy
infantile
0.30.60.6Bijarnia-Mahay et al, 2014;

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587R1096C3
R1096C3
Alpers. Multifocal therapy-refractory epilepsy. hippocampal sclerosis. COX-negative fibers, reduced mtDNA copy number. mtDNA deletions.
-epilepsy
-cox-negative
-Alpers syndrome
-encephalopathy
-developmental delay
infantile
n/a1n/aStewart et al, 2011;

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640R1096C3
Q1236H
R1096C3
Q1236H
developmental delay, dementia, seizures, Alpers, Family history of Alpers syndrome.
-developmental delay
-dementia
-Alpers syndrome
-encephalopathy
-epilepsy
infantile
1n/an/aWong et al, 2008;

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683R1096C3
R1096C3
Epilepsy, Cellular depletion, Hepatopathy
-epilepsy
infantile
0.42n/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: 8
Avg age of onset in displayed cases: 1.1
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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