POLG Pathogenicity Prediction Server
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3 patient data entries in database for mutations R627Q and R1096H.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupAge of onsetAge of patientAge of deathReference
143R1096H3
R627Q5
Onset at 7 years with encephalopathy, hepatopathy, and SLE seizures. Diagnosed as alpers. Death at 8 years.
-encephalopathy
-Alpers syndrome
-developmental delay
-epilepsy
childhood
7n/a8Horvath et al, 2006;

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144R1096H3
R627Q5
At 43 years of age, cerebellar ataxia, dysarthria/dysphagia, sensory neuropathy, PEO, distal muscle wasting, mild cerebellar atrophy.
-cerebellar ataxia
-movement disorder (ataxia)
-cerebellar atrophy
-PEO
-dysphagia
-dysarthria
-distal muscle wasting
adult
2543n/aSchulte et al, 2009;

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578R1096H3
R627Q5
early-onset ataxia, PEO, dysarthria, ptosis, sensory neuropathy, hypoacusis, cerebellar athropy.
-movement disorder (ataxia)
-ptosis
-PEO
-dysarthria
adult
22n/an/aSchicks et al, 2010;

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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: 3
Avg age of onset in displayed cases: 18.0
Std dev in onset in displayed cases: 7.9

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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