POLG Pathogenicity Prediction Server
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10 patient data entries collated from reference Lax et al, 2012a.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupPatient ageAge of onsetAge of death
355R1096C3
A467T2
CPEO, Ptosis, Peripheral neuropathy, COX-deficient fibers, ragged red fibers, presence of mitochondrial dna deletions in muscle, Sensory and motor neuronopathy, Distal and proximal neurogenic change
-peripheral neuropathy
-ragged red fibers
-ptosis
-PEO
juvenile
4217n/a
356A467T2
A467T2
CPEO, Ptosis, Peripheral neuropathy, COX-deficient fibers, ragged red fibers, presence of mitochondrial dna deletions in muscle, Sensory and motor neuronopathy, Distal neurogenic change, proximal myopathy.
-peripheral neuropathy
-ragged red fibers
-myopathy
-ptosis
-PEO
juvenile
3618n/a
357R1047W3
A862T1
CPEO, Ptosis, Peripheral neuropathy, COX-deficient fibers, presence of mitochondrial dna deletions in muscle, ataxia, dysarthria, Axonal sensory neuropathy /neuronopathy, Distal and proximal neurogenic change.
-movement disorder (ataxia)
-peripheral neuropathy
-ptosis
-PEO
-dysarthria
adult
6122n/a
358R1096C3
W748S5
CPEO, Ptosis, Peripheral neuropathy, COX-deficient fibers, ragged red fibers, presence of mitochondrial dna deletions in muscle, epilepsy, Severe sensory and moderate motor neuronopathy, Distal neurogenic change, proximal myopathy
-epilepsy
-peripheral neuropathy
-ragged red fibers
-myopathy
-ptosis
-PEO
adult
4925n/a
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
3626n/a
360W748S5
A467T2
CPEO, Ptosis, Peripheral neuropathy, COX-deficient fibers, ragged red fibers, presence of mitochondrial dna deletions in muscle, Severe sensory and moderate motor neuronopathy, Distal neurogenic change, proximal myopathy
-peripheral neuropathy
-ragged red fibers
-myopathy
-ptosis
-PEO
adult
4734n/a
361A467T2
A467T2
CPEO, Ptosis, Peripheral neuropathy, COX-deficient fibers, presence of mitochondrial dna deletions in muscle, Severe sensory and moderate motor neuronopathy, Distal and proximal neurogenic change,
-peripheral neuropathy
-ptosis
-PEO
adult
4441n/a
362W748S5
A467T2
CPEO, Ptosis, Peripheral neuropathy, COX-deficient fibers, presence of mitochondrial dna deletions in muscle, ataxia, Severe sensory, moderate motor axonal neuronopathy, Distal neurogenic, proximal myopathy
-movement disorder (ataxia)
-peripheral neuropathy
-myopathy
-ptosis
-PEO
adult
4841n/a
363W748S5
A467T2
Peripheral neuropathy, ataxia, epilepsy, COX-deficient fibers, presence of mitochondrial dna deletions in muscle, Moderate sensory neuronopathy
-epilepsy
-movement disorder (ataxia)
-peripheral neuropathy
juvenile
1816n/a
364W748S5
A467T2
Peripheral neuropathy, ataxia, epilepsy, presence of mitochondrial dna deletions in muscle,
-epilepsy
-movement disorder (ataxia)
-peripheral neuropathy
adult
2420n/a

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.

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