POLG Pathogenicity Prediction Server
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4 patient data entries collated from reference Kurt et al, 2010.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupPatient ageAge of onsetAge of death
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
n/a0.010.8
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
n/a0.013
177P1073L3
W748S5
Psychomotor delay, status epilepticus, liver disease, lactic acidosis, ADHD, mental retardation.
-lactic acidosis
-status epilepticus
-liver dysfunction
-psychomotor delay
-retardation
infantile
n/a0.0113
183P1073L3
G848S1
pschomotor delay, seizures, liver disease, GI dysmotility, lactic acidosis.
-lactic acidosis
-liver dysfunction
-GI dysmotility
infantile
n/a0.40.9

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.

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