POLG Pathogenicity Prediction Server
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2 patient data entries in database for mutations G848S and G746S.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupAge of onsetAge of patientAge of deathReference
155G848S1
G746S5
E1143G
Ataxia, PEO, axonal neuropathy, cerebellar atrophy. 3% COX deficient fibers.
-movement disorder (ataxia)
-cerebellar atrophy
-demyelinating neuropathy
-PEO
juvenile
16n/an/aStewart et al, 2009;

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359G848S1
G746S5
CPEO, peripheral neuropathy, ataxia, dysarthria, COX-deficient fibers, presence of mitochondrial dna deletions in muscle, Severe sensory and moderate motor neuronopathy, Distal and proximal neurogenic change
-movement disorder (ataxia)
-peripheral neuropathy
-PEO
-dysarthria
adult
2636n/aLax et al, 2012a;

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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: 2
Avg age of onset in displayed cases: 21.0
Std dev in onset in displayed cases: 5.0

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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