POLG Pathogenicity Prediction Server
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4 patient data entries in database for mutations P587L and R807P.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupAge of onsetAge of patientAge of deathReference
45R807P3
T251I
P587L2
PEO
-PEO
adult
4647n/aDi Fonzo et al, 2003;

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46R807P3
T251I
P587L2
PEO, dysphagia
-PEO
-dysphagia
adult
4552n/aDi Fonzo et al, 2003;

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47R807P3
T251I
P587L2
PEO, axonal sensorimotor polyneuropathy
-polyneuropathy
-axonal sensorimotor polyneuropathy
-PEO
adult
6071n/aDi Fonzo et al, 2003;

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601R807P3
T251I
P587L2
PEO, complicated by dysphagia, myopathy.
-myopathy
-PEO
-dysphagia
adult
n/a71n/aDel Bo et al, 2003;

[view data]

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: 4
Avg age of onset in displayed cases: 55.5
Std dev in onset in displayed cases: 10.7

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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