POLG Pathogenicity Prediction Server
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2 patient data entries in database for mutations W748S and S28C.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupAge of onsetAge of patientAge of deathReference
162W748S5
S28C
W748S5
Headaches/migraines, ataxia, peripheral neuropathy, exercise intolerance, ophthalmoporesis/CPEO, abnormal EMG/NCV, ptosis, constipation, pseudo-obstruction, hearing loss, abnormal BAERS. 83% mtDNA copy number in blood.
-movement disorder (ataxia)
-peripheral neuropathy
-exercise intolerance
-ptosis
-PEO
-headache/ migraine
-GI dysmotility
-hearing loss
adult
n/a25n/aTang et al, 2011;

[view data]

347W748S5
S28C
W748S5
migraine, ptosis, PEO, exercise intolerance, sensorimotor peripheral neuropathy, ataxia, pseudoobstruction, constipation, and sensorineural hearing loss,
-movement disorder (ataxia)
-peripheral neuropathy
-exercise intolerance
-ptosis
-PEO
-headache/ migraine
-hearing loss
adult
n/a25n/aTang et al, 2012;

[view data]

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: 2
Avg age of onset in displayed cases: 25.0
Std dev in onset in displayed cases: 0.0

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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