POLG Pathogenicity Prediction Server
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5 patient data entries in database for mutations T251I and P587L.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupAge of onsetAge of patientAge of deathReference
23T251I
P587L2
T251I
P587L2
PEO with myopathy, chronic bronchitis.
-myopathy
-PEO
-chronic bronchitis
adult
63n/an/aHorvath et al, 2006;

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37T251I
P587L2
T251I
P587L2
PEO with myopathy
-myopathy
-PEO
adult
6270n/aHorvath et al, 2006;

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38T251I
P587L2
T251I
P587L2
PEO with myopathy
-myopathy
-PEO
adult
n/a56n/aHorvath et al, 2006;

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39T251I
P587L2
T251I
P587L2
Mild bilateral ptosis, PEO.
-ptosis
-PEO
adult
41n/an/aStewart et al, 2009;

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588T251I
P587L2
T251I
P587L2
Alpers. nocturnal nausea followed by loss of consciousness without motor relinquishing. obsessive–compulsive disorder.
-Alpers syndrome
-encephalopathy
-developmental delay
-epilepsy
juvenile
1626n/aStewart et al, 2011;

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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: 5
Avg age of onset in displayed cases: 47.6
Std dev in onset in displayed cases: 17.6

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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