POLG Pathogenicity Prediction Server
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3 patient data entries in database for mutations A467T and R627W.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupAge of onsetAge of patientAge of deathReference
115R627W5
A467T2
Onset at 32 years with encephalopathy, PEO, ataxia, dysphagia, myopathy, neuropathy and cardiomyopathy, hearing loss. Death at 41 years.
-movement disorder (ataxia)
-myopathy
-PEO
-encephalopathy
-dysphagia
-hearing loss
adult
32n/a41Horvath et al, 2006;

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116R627W5
A467T2
PEO, SANDO (Horvath 2006 or Van goethem 2003) sensory ataxic neuropathy, PEO, dysarthria.
-sensory ataxia
-PEO
-dysarthria
adult
20n/an/aHorvath et al, 2006;

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117R627W5
A467T2
Onset at 39 years with PEO, ataxia, myopathy, and hearing loss.
-movement disorder (ataxia)
-myopathy
-PEO
-hearing loss
adult
39n/an/aHorvath et al, 2006;

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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: 30.3
Std dev in onset in displayed cases: 7.8

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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