POLG Pathogenicity Prediction Server
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2 patient data entries in database for mutations P1073L and A467T.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupAge of onsetAge of patientAge of deathReference
91P1073L3
A467T2
Psychomotor delay, seizures, liver disease, GI dysmotility, lactic acidosis, ptosis, hearing loss.
-lactic acidosis
-ptosis
-liver dysfunction
-psychomotor delay
-GI dysmotility
-hearing loss
infantile
0.01n/a0.8Kurt et al, 2010;

[view data]

92P1073L3
A467T2
Psychomotor delay, status epilepticus, liver disease, GI dysmotility, lactic acidosis, optic atrophy.
-lactic acidosis
-status epilepticus
-optic atrophy
-liver dysfunction
-psychomotor delay
-GI dysmotility
infantile
0.01n/a3Kurt et al, 2010;

[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: 0.0
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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