POLG Pathogenicity Prediction Server
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3 patient data entries in database for clusters P587L and 4 in age group "infantile".

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupAge of onsetAge of patientAge of deathReference
11T251I
P587L2
C224Y4
Alpers, trunk hypotonia, seizures at 4 months, RC deficiency in liver. 28% mtDNA copy number in liver.
-liver dysfunction
-hypotonic
-Alpers syndrome
-encephalopathy
-developmental delay
-epilepsy
infantile
0.3n/an/aSarzi et al, 2007;

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19T251I
P587L2
R232G4
Alpers, epilepsy and hepatopathy, onset 5 months of age.
-epilepsy
-Alpers syndrome
-encephalopathy
-developmental delay
infantile
0.5n/an/aAshley et al, 2008;

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33R232G4
T251I
P587L2
Infantile hepatocerebral, presented at 3 months as hypotonia followed by mtDNA depletion in liver, dementia, and death at 6 months by ventilatory insufficiency.
-hepatocerebral
-hypotonic
-dementia
-respiratory deficiency
infantile
0.3n/a0.5Ferrari et al, 2005;

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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: 3
Avg age of onset in displayed cases: 0.4
Std dev in onset in displayed cases: 0.1

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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