POLG Pathogenicity Prediction Server
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7 patient data entries in database for mutations L304R and L304R.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupAge of onsetAge of patientAge of deathReference
50L304R3
L304R3
Seizures, ptosis, elevated transaminases, lactic acidosis, elevated dopamine, abnormal MRI. 48% mtDNA copy number in muscle, 26% mtDNA copy number in liver.
-lactic acidosis
-ptosis
infantile
n/a4n/aTang et al, 2011;

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51L304R3
L304R3
CPEO, muscle weakness, ptosis, ataxia. 53% mtDNA copy number in blood.
-movement disorder (ataxia)
-muscle weakness
-ptosis
-PEO
childhood
n/a10n/aTang et al, 2011;

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55L304R3
L304R3
CPEO, ptosis, ataxia, abnormal EMG/NCV, cerebellar atrophy, large mitochondrial proliferation, ragged red fibers, easy fatigability, abnormal muscle histology, hypotonia, lactic acidosis, high CSF lactate, organic aciduria/tiglyglycine, low plasma carnitine. 36% mtDNA copy number in muscle, 22% mtDNA copy number in blood.
-lactic acidosis
-movement disorder (ataxia)
-cerebellar atrophy
-abnormal muscle histology
-ragged red fibers
-ptosis
-PEO
-hypotonic
childhood
n/a9n/aTang et al, 2011;

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56L304R3
L304R3
Peripheral neuropathy exercise intolerance, easy fatigability, CPEO, abnormal EMG/NCV, ptosis, lactic acidosis, CPK abnormalities, short stature, FTT, abnormal VERS, developmental delay, abnormal respiratory enzymes, ragged red fibers. 37% mtDNA copy number in muscle, 20% mtDNA copy number in blood.
-lactic acidosis
-peripheral neuropathy
-ragged red fibers
-exercise intolerance
-ptosis
-PEO
-failure to thrive
-developmental delay
-CPK abnormalities
childhood
n/a12n/aTang et al, 2011;

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57L304R3
L304R3
Peripheral neuropathy, exercise intolerance, muscle weakness, abnormal EMG/NCV, ptosis, lactic acidosis, COX deficiency, CPEO. 58% mtDNA copy number in blood.
-lactic acidosis
-peripheral neuropathy
-muscle weakness
-exercise intolerance
-ptosis
-PEO
childhood
n/a9n/aTang et al, 2011;

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58L304R3
L304R3
Peripheral neuropathy exercise intolerance, muscle weakness, easy fatigability, abnormal EMG/NCV, ptosis, CPK abnormalities, short stature, abnormal muscle histology, ragged red fibers, elevated pyruvate. 45% mtDNA copy number in blood.
-peripheral neuropathy
-abnormal muscle histology
-ragged red fibers
-muscle weakness
-exercise intolerance
-ptosis
-CPK abnormalities
juvenile
n/a23n/aTang et al, 2011;

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685L304R3
L304R3
Relatively Mild phenotype
-no known symptoms
childhood
10n/an/aAshley 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: 7
Avg age of onset in displayed cases: 11.0
Std dev in onset in displayed cases: 5.4

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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