POLG Pathogenicity Prediction Server
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3 patient data entries collated from reference Burusnukul and de los Reyes, 2009.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupPatient ageAge of onsetAge of death
281G517V2
Global developmental delay, Central hypotonia, Nystagmus and eye surgery, Autistic features, Generalized seizure, Hypnic myoclonia, Intermittent hypoglycemia, Abnormal MRI
-hypotonic
-developmental delay
-nystagmus
-hypoglycemia
infantile
4.50.7n/a
282G517V2
Migraines, Complex partial seizure with secondarily generalization, mild developmental delay, muscle cramps and experienced easy fatigability,
-headache/ migraine
-developmental delay
childhood
n/a7n/a
283T251I
P587L2
Global developmental delay, Central hypotonia, Torticollis, feeding difficulty at birth, myoclonic seizure, horizontal nystagmus, Intermittent estropia, Abnormal MRI
-hypotonic
-developmental delay
-nystagmus
infantile
n/a0.4n/a

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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