POLG Pathogenicity Prediction Server
Home Query References Browse Contact

5 patient data entries in database for mutations A467T and L966R.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupAge of onsetAge of patientAge of deathReference
106L966R1
A467T2
Reported as Alpers, onset at 4 years, presenting encephalopathy with epilepsy.
-epilepsy
-encephalopathy
-Alpers syndrome
-developmental delay
childhood
4n/an/aAshley et al, 2008;

[view data]

266L966R1
A467T2
Alpers
-Alpers syndrome
-encephalopathy
-developmental delay
-epilepsy
unknown
n/an/an/aNguyen et al, 2006;

[view data]

323L966R1
A467T2
Generalized tonic-clonic seizures, Focal motor seizures, Epilepsia partialis continua, Developmental Delay or Regression, visual disturbance, Abnormal Liver Enzymes, liver mtDNA depletion, Alpers
-epilepsia partialis
-developmental delay
-Alpers syndrome
-encephalopathy
infantile
0.75n/a1.75Hunter et al, 2011;

[view data]

324L966R1
A467T2
Focal motor seizures, Epilepsia partialis continua, Developmental Delay or Regression, motor paresis, tremor Abnormal Liver Enzymes, Alpers
-epilepsia partialis
-developmental delay
-Alpers syndrome
-tremor
-encephalopathy
infantile
1.42n/a1.58Hunter et al, 2011;

[view data]

327L966R1
A467T2
focal seizures, elevated blood lactate, elevated liver enzymes, Elevated CSF protein, severe lactic acidosis, severe encephalopathy, Death occurred ten days after admission
-lactic acidosis
-focal seizures
-encephalopathy
infantile
1.42n/a1.42McCoy 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: 5
Avg age of onset in displayed cases: 1.9
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 :.: