POLG Pathogenicity Prediction Server
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2 patient data entries in database for mutations T251I and H932Y.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupAge of onsetAge of patientAge of deathReference
25H932Y1
T251I
P587L2
Peripheral neuropathy, exercise intolerance, muscle cramps after exercise, easy fatigability, arrythmia, CPEO, abnormal EMG/NCV, ptosis, cataract, abnormal muscle histology, abnormal muscle ultrastructure, COX deficiency, ragged red fibers. 123% mtDNA copy number in blood.
-peripheral neuropathy
-abnormal muscle histology
-abnormal muscle ultrastructure
-ragged red fibers
-exercise intolerance
-ptosis
-PEO
adult
n/a31n/aTang et al, 2011;

[view data]

26H932Y1
T251I
P587L2
Peripheral neuropathy, ptosis, muscle weakness, CPK abnormalities. 77% mtDNA copy number in blood.
-peripheral neuropathy
-muscle weakness
-ptosis
-CPK abnormalities
adult
n/a41n/aTang et al, 2011;

[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: 36.0
Std dev in onset in displayed cases: 5.0

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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