POLG Pathogenicity Prediction Server
Home Query References Browse Contact

3 patient data entries in database for mutations S305R and A467T.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupAge of onsetAge of patientAge of deathReference
65A467T2
S305R3
Liver failure. 51% mtDNA copy number in muscle, 9% mtDNA copy number in liver, 87% mtDNA copy number in blood.
-liver failure
infantile
n/a1n/aTang et al, 2011;

[view data]

66A467T2
S305R3
Alpers, died at age four. Sister also died at age 4 .
-Alpers syndrome
-encephalopathy
-developmental delay
-epilepsy
childhood
n/an/a4Blok et al, 2009;

[view data]

322S305R3
A467T2
Myoclonic Seizures, Focal motor seizures, Developmental Delay or Regression, visual disturbance, Multi-organ failure, pancreatitis Abnormal Liver Enzymes, Serum Lactate, liver mtDNA depletion, Alpers
-myoclonic seizures
-developmental delay
-pancreatitis
-Alpers syndrome
-encephalopathy
-epilepsy
childhood
3n/a3.67Hunter et al, 2011;

[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: 3
Avg age of onset in displayed cases: 2.7
Std dev in onset in displayed cases: 1.2

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