POLG Pathogenicity Prediction Server
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4 patient data entries in database for mutation T851A.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupAge of onsetAge of patientAge of deathReference
186R1047W3
T851A1
Juvenile Alpers, migraines at 12 years, ataxia, peripheral neuropathy, seizures, VPA-induced hepatopathy.
-movement disorder (ataxia)
-peripheral neuropathy
-headache/ migraine
-Alpers syndrome
-encephalopathy
-developmental delay
-epilepsy
childhood
12n/a17Wiltshire et al, 2008;

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235T851A1
H277L3
Onset at 6 months of age, epilepsy, hepatopathy. 4% mtDNA copy number in liver, 32% mtDNA copy number in muscle.
-epilepsy
infantile
0.5n/an/aAshley et al, 2008;

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350T851A1
P163S
CPEO, Seizures, neuropathy, ataxia, dysphagia/ dysarthria, bowel pseudo-obstruction,
-movement disorder (ataxia)
-PEO
-GI dysmotility
-dysphagia
-dysarthria
adult
21n/an/aWoodbridge et al, 2012;

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351T851A1
N468D2
CPEO, neuropathy, ataxia, hepatopathy, dysphagia/ dysarthria, gastrointestinal symptoms, severe diarrhoea alternating with constipation,
-movement disorder (ataxia)
-PEO
-dysphagia
-dysarthria
childhood
n/a49n/aWoodbridge et al, 2012;

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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: 4
Avg age of onset in displayed cases: 20.6
Std dev in onset in displayed cases: 17.9

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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