POLG Pathogenicity Prediction Server
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13 patient data entries in database for clusters 1 and 5 in age group "childhood".

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupAge of onsetAge of patientAge of deathReference
74G737R5
G426S1
Seizures, intractable seizures, abnormal EEG, abnormal MRI. 135% mtDNA copy number in blood.
-intractable seizure
childhood
n/a11n/aTang et al, 2011;

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154R943C1
E1143G
G737R5
Onset at age 3 with dementia,lactic acidosis, renal tubulopathy, dysmorphic features, cataract, short stature, myopathy.
-lactic acidosis
-myopathy
-dementia
-renal tubulopathy
childhood
3n/an/aWong et al, 2008;

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163T914P1
W748S5
Seizures. 98% mtDNA copy number in blood.
-no known symptoms
childhood
n/a5n/aTang et al, 2011;

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165R852H1
W748S5
Alpers. 46% mtDNA copy number in blood.
-Alpers syndrome
-encephalopathy
-developmental delay
-epilepsy
childhood
n/a3n/aTang et al, 2011;

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169G848S1
W748S5
E1143G
Onset at 6.5 years with alpers syndrome and death at 7.8 years. 23% mtDNA copy number in liver.
-Alpers syndrome
-encephalopathy
-developmental delay
-epilepsy
childhood
6.5n/a7.8Taanman et al, 2009;

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171G848S1
W748S5
Headaches/migrains, seizures, intractable seizure, cortical blindness. 32% mtDNA copy number in blood.
-intractable seizure
-headache/ migraine
-cortical blindness
childhood
n/a7n/aTang et al, 2011;

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173G848S1
W748S5
Hypotonia, myoclonus, or myoclonic seizures, intractable seizure, hepatic failure, abnormal EEG. 38% mtDNA copy number in blood.
-myoclonic seizures
-intractable seizure
-liver failure
-hypotonic
childhood
n/a5n/aTang et al, 2011;

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174G848S1
W748S5
Reported as Alpers, onset at 6 years, presenting encephalopathy with epilepsy, hepatopathy absent, and movement disorder (ataxia).
-epilepsy
-movement disorder (ataxia)
-encephalopathy
-Alpers syndrome
-developmental delay
childhood
6n/an/aAshley et al, 2008;

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190G737R5
R853W1
Migraines in childhood, In 20s presented with peripheral sensory neuropathy and parkinsonisms.
-sensomotor neuropathy
-parkinson's disease
-headache/ migraine
childhood
n/an/an/aDavidzon et al, 2006;

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197W748S5
T914P1
reported as Alpers, onset at 4 years, presenting encephalopathy with epilepsy, hepatopathy, and movement disorder (ataxia). 15% mtDNA copy number in liver.
-epilepsy
-movement disorder (ataxia)
-encephalopathy
-Alpers syndrome
-developmental delay
childhood
4n/an/aAshley et al, 2008;

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288G848S1
W748S5
status epilepticus onset epilepsia partialis continua, elevated CSF lactate, elevated CSF protein,
-status epilepticus
-epilepsia partialis
childhood
10.67n/a11.5Wolf et al, 2009;

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317G848S1
W748S5
Myoclonic Seizures, Generalized tonic-clonic seizures, Focal motor seizures, Epilepsia partialis continua, Developmental Delay or Regression, ataxia, Abnormal Liver Enzymes, Serum Lactate, Alpers
-myoclonic seizures
-epilepsia partialis
-movement disorder (ataxia)
-developmental delay
-Alpers syndrome
-encephalopathy
childhood
6n/a6.75Hunter et al, 2011;

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440T914P1
W748S5
Refractory generalized epilepsy with status epilepticus, hepatic cholestasis and cytolysis, proximal tubulopathy, hyperintensity of thalamus. mtDNA depletion.
-status epilepticus
-epilepsy
-cholestasis
childhood
6n/an/aRouzier et al, 2013;

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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: 13
Avg age of onset in displayed cases: 6.1
Std dev in onset in displayed cases: 2.4

Search criteria for patient entries:
Mutations Entry IDs Clusters Reference Residue range
Patients for cluster combinations:
First cluster: Second cluster:
Age group: Any Infantile Childhood Juvenile Adult
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