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Mutation Query
Allele 1:R227W
Allele 2: G848S

Allelic information known

Refine query
227848
Residue R227
Cluster assignment:
Cluster 4
Cluster description:Distal accessory subunit interface
Subcluster:4A (residues 224-244)
Subcluster description:These mutations map to the exo domain along the distal accessory subunit interface.
POLG domain:Exonuclease domain
Residue G848
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
R227W
Number of patients:

(with R227W)

7
Found together with:
Non-allelic
29
T251I
29
P587L
29
G848S
14
A467T
14
D1184N
14
S1176L
%
Show Patient Data
G848S
Number of patients:

(with G848S)

66
Found together with:
Non-allelic
36
A467T
29
W748S
18
E1143G
9
T251I
8
P587L
6
A143V
6
Q497H
3
R227W
3
R627Q
3
G746S
%
Also:
P1073L (3%) S1104C (3%) R232H (2%)
R1096C (2%) G848S (2%)
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 4:
Age of onset information is extracted from a total of 5 patients and/ or patient families.
Age of onset
5-
3-
4
0
0
1
infantilechildhdjuvenileadult
80%0%0%20%
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 cluster4-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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