POLG Pathogenicity Prediction Server
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Mutation Query
Allele 1:R309L
Allele 2: Q968E

Allelic information known

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309968
Residue R309
Cluster assignment:
Cluster 3
Cluster description:Partitioning loop
Subcluster:3B (residues 303-319)
Subcluster description:A helix-coil-helix module (residues 295-312) located in the Exo domain that has been termed the "orienter" module
POLG domain:Exonuclease domain
Residue Q968
Cluster assignment:
SNP
Cluster description:Single Nucleotide Polymorphism
POLG domain:Polymerase domain
Mutation Information
R309L
Number of patients:

(with R309L)

2
Found together with:
Non-allelic
50
T251I
50
P587L
50
Q968E
%
Show Patient Data
Q968E
Number of patients:

(with Q968E)

1
Non-allelic with:R309L (100%)
Show Patient Data
The following information is based on PON-P2 mutation pathogenicity prediction software results.
Cluster 3 mutation with a non-cluster-mapping mutation (SNP) Q968E
PON-P2 predictions results for Q968E
Pathogenicity:Pathogenic
Probability:0.775
Standard Error:0.06
Prediction result is based on sequence analysis only and may not be accurate.

Risk of POLG-related syndromes exists.
Mutation pathogenicity prediction suggests that this mutation could be pathogenic. Predicted chance of pathogenicity is 77.5%.

See further details for residue 968.

All mutations mapping into the pathogenic clusters are in high risk of being pathogenic. As a rule, a patient must have a pathogenic mutation in both of his/ her POLG genes to develop a POLG-related syndrome.
New Mutation Query
Type in POLG mutations:
Allele 1:Allele 2:
Allelic information known
Allelic information not known
Example input: A467T T914P
Mutations in the same allele can be separated with a comma
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