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Mutation Query
Allele 1:S933R
Allele 2: A957V

Allelic information known

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957
933
Residue S933
Cluster assignment:
Cluster 1
Cluster description:Polymerase active site and environs
Subcluster:1E (residues 914-966)
Subcluster description:This subcluster comprises most of the fingers subdomain of the pol domain, including the O-helix and the Pol B motif (Loh and Loeb, 2005).
POLG domain:Polymerase domain
Residue A957
Cluster assignment:
Cluster 1
Cluster description:Polymerase active site and environs
Subcluster:1E (residues 914-966)
Subcluster description:This subcluster comprises most of the fingers subdomain of the pol domain, including the O-helix and the Pol B motif (Loh and Loeb, 2005).
POLG domain:Polymerase domain
Mutation Information
S933R
Number of patients:

(with S933R)

1
Non-allelic with:A957V (100%)
Show Patient Data
A957V
Number of patients:

(with A957V)

4
Found together with:
Non-allelic
25
G737R
25
S933R
25
C1077G
25
I1185T
%
Show Patient Data
The following information is based on existing patient data and pathogenic cluster assignment.

Pathogenicity information for a patient with mutations in Clusters 1 and 1:
Age of onset information is extracted from a total of 20 patients and/ or patient families.
Age of onset
20-
10-
2
7
3
8
infantilechildhdjuvenileadult
10%35%15%40%
All mutations mapping within the pathogenic clusters are at high risk for pathogenicity. In general, a patient must have a pathogenic mutation in both of his/ her POLG genes to develop a POLG-related syndrome.
Symptoms described in patients with cluster1-cluster1 mutations
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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