POLG Pathogenicity Prediction Server
Home Query References Browse Contact

2 patient data entries collated from reference Stewart et al, 2011.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupPatient ageAge of onsetAge of death
587R1096C3
R1096C3
Alpers. Multifocal therapy-refractory epilepsy. hippocampal sclerosis. COX-negative fibers, reduced mtDNA copy number. mtDNA deletions.
-epilepsy
-cox-negative
-Alpers syndrome
-encephalopathy
-developmental delay
infantile
1n/an/a
588T251I
P587L2
T251I
P587L2
Alpers. nocturnal nausea followed by loss of consciousness without motor relinquishing. obsessive–compulsive disorder.
-Alpers syndrome
-encephalopathy
-developmental delay
-epilepsy
juvenile
2616n/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.

Search criteria for patient entries:
Mutations Entry IDs Clusters Reference Residue range
Reference:

References in full format are accessible through the references page.

:.: Privacy Statement :.: Disclaimer :.: Contact Information :.: