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Mutation Query
Allele 1:G737R
Allele 2: R853W

Allelic information known

Refine query
737853
Residue G737
Cluster assignment:
Cluster 5
Cluster description:Putative protein-protein interactions
Subcluster:5B (residues 737-749)
Subcluster description:Located in the periphery of the IP subdomain of the spacer domain, distant from the DNA binding channel
POLG domain:Spacer domain
Residue R853
Cluster assignment:
Cluster 1
Cluster description:Polymerase active site and environs
Subcluster:1D (residues 848-895)
Subcluster description:This subcluster forms a large portion of the pol active site and contains two highly conserved motifs that are found in all family A polymerases: the RR loop (motif 2) and motif A (Loh and Loeb, 2005).
POLG domain:Polymerase domain
Mutation Information
G737R
Number of patients:

(with G737R)

13
Found together with:
Non-allelic
15
A467T
15
A767D
15
R853W
8
R232H
8
S64L
8
L304R
8
G426S
8
A957V
8
V855L
8
R943C
%
Also:
E1143G (8%) W748S (8%)
Show Patient Data
R853W
Number of patients:

(with R853W)

2
Non-allelic with:G737R (100%)
Show Patient Data
The following information is based on existing patient data and pathogenic cluster assignment.

Pathogenicity information for a patient with mutation G737R and a cluster 1 mutation:
Age of onset information is extracted from a total of 6 patients and/ or patient families.
Age of onset
6-
3-
2
3
0
1
infantilechildhdjuvenileadult
33%50%0%17%
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 G737R-cluster1 mutations
Symptoms described in patients with cluster5-cluster1 mutations
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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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