POLG Pathogenicity Prediction Server
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13 patient data entries in database for clusters 1 and 2 in age group "childhood".

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupAge of onsetAge of patientAge of deathReference
48N1157S1
P587L2
T251I
N/A (as reported in Tang 2011 JMG)
-no known symptoms
childhood
n/a9n/aTang et al, 2011;

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73A467T2
C418R1
Onset at 3 years of age, encephalopathy presenting with epilepsy and movement disorder (ataxia).
-epilepsy
-movement disorder (ataxia)
-encephalopathy
childhood
3n/an/aAshley et al, 2008;

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101T914P1
A467T2
Developmental delay, hypotonia, dementia/encephalopathy, seizures, intractable seizure, lactic acidosis, high CSF lactate, abnormal MRI, no liver problem at 3.5 years. 24% mtDNA copy number in blood.
-lactic acidosis
-intractable seizure
-hypotonic
-encephalopathy
-developmental delay
-dementia
childhood
n/a3n/aTang et al, 2011;

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103T914P1
A467T2
Developmental delay, headaches/migraines, seizures, hemiparesis, intractable seizure, high CSF lactate, high CSF protein, hearing loss, abnormal EEG, increased signal basal ganglia, abnormal MRI. 88% mtDNA copy number in blood.
-hemiparesis
-intractable seizure
-headache/ migraine
-developmental delay
-hearing loss
childhood
n/a5n/aTang et al, 2011;

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104T914P1
A467T2
Onset at 4 years with encephalopathy, myoclonus, and SLE.
-myoclonic seizures
-encephalopathy
childhood
48n/aHorvath et al, 2006;

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106L966R1
A467T2
Reported as Alpers, onset at 4 years, presenting encephalopathy with epilepsy.
-epilepsy
-encephalopathy
-Alpers syndrome
-developmental delay
childhood
4n/an/aAshley et al, 2008;

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107C1188R1
A467T2
Developmental delay, seizures, abnormal MRI, hypotonia, low in blood.
-hypotonic
-developmental delay
childhood
n/a3n/aTang et al, 2011;

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311G848S1
A467T2
Cyclic vomiting, episodic hypoglycemia then seizure onset at 6 years, generalized seizures, GI dysmotility, eyelid ptosis,ophthalmoplegia, sensorineural hearning loss, absent smooth pursuit eye movements
-ptosis
-ophthalmoplegia
-GI dysmotility
-vomiting
-cyclic vomiting
-hypoglycemia
childhood
611n/aSaneto et al, 2010;

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351T851A1
N468D2
CPEO, neuropathy, ataxia, hepatopathy, dysphagia/ dysarthria, gastrointestinal symptoms, severe diarrhoea alternating with constipation,
-movement disorder (ataxia)
-PEO
-dysphagia
-dysarthria
childhood
n/a49n/aWoodbridge et al, 2012;

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421D1184N1
T251I
P587L2
Peripheral neuropathy, PEO, ataxia, epilepsy, fatty liver
-epilepsy
-movement disorder (ataxia)
-peripheral neuropathy
-PEO
childhood
9n/a33Amiot et al, 2009;

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422D1184N1
T251I
P587L2
Peripheral neuropathy, PEO, fatty liver
-peripheral neuropathy
-PEO
childhood
9n/a30Amiot et al, 2009;

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536S1104F1
A467T2
Epilepsy, Ataxia, Myopathy.
-epilepsy
-movement disorder (ataxia)
-myopathy
childhood
n/a5n/aSitarz et al, 2014;

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632G848S1
A467T2
Developmental delay, dementia, seizures, Alpers, Stroke, ataxia, exercise intolerance
-movement disorder (ataxia)
-exercise intolerance
-stroke
-developmental delay
-dementia
-Alpers syndrome
-encephalopathy
-epilepsy
childhood
9n/an/aWong 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: 13
Avg age of onset in displayed cases: 9.1
Std dev in onset in displayed cases: 11.8

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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