POLG Pathogenicity Prediction Server
Home Query References Browse Contact

3 patient data entries in database for mutations A467T and F749S.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupAge of onsetAge of patientAge of deathReference
126F749S5
A467T2
Intractable seizure, abrubt onset of seizure. 15% mtDNA copy number in blood.
-intractable seizure
childhood
n/a6n/aTang et al, 2011;

[view data]

178A467T2
F749S5
Authors report N/A. 6% mtDNA copy number in blood.
-no known symptoms
infantile
n/a0.8n/aTang et al, 2011;

[view data]

262F749S5
A467T2
Alpers
-Alpers syndrome
-encephalopathy
-developmental delay
-epilepsy
unknown
n/an/an/aNguyen et al, 2006;

[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: 3.4
Std dev in onset in displayed cases: 2.6

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 :.: