POLG Pathogenicity Prediction Server
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6 patient data entries in database for mutations G848S and T251I.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupAge of onsetAge of patientAge of deathReference
27G848S1
T251I
P587L2
Ocular bulbar weakness, peripheral neuropathy, muscle weakness, CPEO, ptosis, hypothyroidism, abnormal muscle histology, abnormal muscle ultrastructure, large mitochondrial proliferation, ragged red fibers. 96% mtDNA copy number in blood. Patient II-44.
-peripheral neuropathy
-abnormal muscle histology
-abnormal muscle ultrastructure
-ragged red fibers
-muscle weakness
-ptosis
-PEO
-ocular bulbar weakness
-hypothyroidism
adult
n/a81n/aTang et al, 2011;

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250G848S1
T251I
P587L2
PEO, severe ophthalmoplegia and ptosis, which appeared insidiously and had been present clinically since the age of 55. Muscle biopsy at age 68 revealed mitochondrial myopathy, as well as muscle inflammation with granulomas. multiple mtDNA deletions in muscle tissue.
-myopathy
-mitochondrial myopathy
-ptosis
-PEO
-ophthalmoplegia
adult
5575n/aKollberg et al, 2005;

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313G848S1
T251I
P587L2
progressively droopy eyelids, double vision, gait instability, proximal arm weakness, ragged red and ragged blue (succinate dehydrogenase–positive) fibers in about 3% and 6% of all muscle fibers, bilateral ptosis, diplopia, dysarthria, myopathy involving the facial muscles, sensory ataxic polyneuropathy
-polyneuropathy
-ragged red fibers
-myopathy
-ptosis
-diplopia
-dysarthria
adult
n/a80n/aWeiss and Saneto, 2010;

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438G848S1
T251I
CPEO, multiple mtDNa deletions.
-PEO
adult
45n/an/aRouzier et al, 2013;

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604G848S1
T251I
P587L2
PEO. cytochrome c oxidase negative ragged red fibers, and multiple mtDNA deletions in skeletal muscle.
-ragged red fibers
-cox-negative
-PEO
adult
n/an/an/aLamantea et al, 2002;

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639G848S1
T251I
P587L2
Alpers
-Alpers syndrome
-encephalopathy
-developmental delay
-epilepsy
infantile
0.5n/an/aWong et al, 2008;

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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: 6
Avg age of onset in displayed cases: 52.3
Std dev in onset in displayed cases: 29.4

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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