POLG Pathogenicity Prediction Server
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3 patient data entries collated from reference Isohanni et al, 2011.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupPatient ageAge of onsetAge of death
159R807C3
W748S5
E1143G
epilepsy, vomiting, lowered consciousness, partial status epilepticus, epilepsia partialis continua, myoclonus, pschomotor regression, liver failure before valproate treatment, death via pneumonia. 72-76% mtDNA copy number in muscle.
-status epilepticus
-myoclonic seizures
-epilepsy
-epilepsia partialis
-liver failure
-pschomotor regression
-lowered consciousness
-vomiting
infantile
n/a13
160T914P1
W748S5
E1143G
developmental delay, vomiting, partial status epilepticus, epilepsia partialis continua, myoclonus, ataxia, alive at age 3.
-status epilepticus
-myoclonic seizures
-epilepsia partialis
-movement disorder (ataxia)
-developmental delay
-vomiting
infantile
32.5n/a
170G848S1
W748S5
E1143G
Partial status epilepticus, epilepsia partialis, continua, hemiparesis, myoclonus, loss of vision, optical atrophy, pschomotor regression, liver dysfunction, death via pneumonia.
-status epilepticus
-myoclonic seizures
-hemiparesis
-epilepsia partialis
-liver dysfunction
-pschomotor regression
infantile
n/a111

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.

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