POLG Pathogenicity Prediction Server
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5 patient data entries in database for mutations W748S and R852C.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupAge of onsetAge of patientAge of deathReference
187W748S5
R852C1
G11D
reported as Alpers, onset at 1 years, presenting encephalopathy with epilepsy, hepatopathy, and movement disorder (ataxia). 32% mtDNA copy number in liver.
-epilepsy
-movement disorder (ataxia)
-encephalopathy
-Alpers syndrome
-developmental delay
infantile
1n/an/aAshley et al, 2008;

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286W748S5
R852C1
G11D
Developmental retardation, Hypotonia, ataxia, seizures myoclonus, abnormal eye movement, gastrointestinal problems, hepatic involvement
-myoclonic seizures
-movement disorder (ataxia)
-hypotonic
-retardation
-GI problems
infantile
0.3n/a1.1Naess et al, 2009;

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349R852C1
G11D
W748S5
E1143G
PEO, alpers disease, ataxia, seizure, hypotonia, developemental delay,
-movement disorder (ataxia)
-PEO
-hypotonic
-Alpers syndrome
-encephalopathy
-developmental delay
-epilepsy
infantile
0.001n/an/aVasta et al, 2012;

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457R852C1
W748S5
Q497H2
E1143G
Alpers/ Alpers–Huttenlocher.
-Alpers syndrome
-encephalopathy
-developmental delay
-epilepsy
infantile
n/an/an/aSofou et al, 2013;

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520W748S5
E1143G
G11D
R852C1
Alpers, Seizures, Epilepsia partialis continua, liver failure, stroke-like episode.
-epilepsia partialis
-stroke
-liver failure
-Alpers syndrome
-encephalopathy
-developmental delay
infantile
1.33n/an/aStewart et al, 2009;

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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: 5
Avg age of onset in displayed cases: 0.7
Std dev in onset in displayed cases: 0.5

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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