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Mutation Query
Allele 1:A957V
Allele 2: C1077G

Allelic information known

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9571077
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
Residue C1077
Cluster assignment:
Cluster 3
Cluster description:Partitioning loop
Subcluster:3D (residues 1047-1096)
Subcluster description:The partitioning loop, which is a novel structural module conserved in PolG (residues 1050-1095) that is located between the fingers and palm subdomains of the pol domain, and is not present in any other known DNA polymerase (Euro et al, 2011).
POLG domain:Polymerase domain
Mutation Information
A957V
Number of patients:

(with A957V)

4
Found together with:
Non-allelic
25
G737R
25
S933R
25
C1077G
25
I1185T
%
Show Patient Data
C1077G
Number of patients:

(with C1077G)

1
Non-allelic with:A957V (100%)
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 3:
Age of onset information is extracted from a total of 18 patients and/ or patient families.
Age of onset
18-
9-
9
2
2
5
infantilechildhdjuvenileadult
50%11%11%28%
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-cluster3 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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