POLG Pathogenicity Prediction Server
Home Query References Browse Contact

4 patient data entries collated from reference Nguyen et al, 2006.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupPatient ageAge of onsetAge of death
262F749S5
A467T2
Alpers
-Alpers syndrome
-encephalopathy
-developmental delay
-epilepsy
unknown
n/an/an/a
264R852C1
A467T2
Alpers
-Alpers syndrome
-encephalopathy
-developmental delay
-epilepsy
unknown
n/an/an/a
265T914P1
A467T2
Alpers
-Alpers syndrome
-encephalopathy
-developmental delay
-epilepsy
unknown
n/an/an/a
266L966R1
A467T2
Alpers
-Alpers syndrome
-encephalopathy
-developmental delay
-epilepsy
unknown
n/an/an/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 :.: