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Mutation Query
Allele 1:A143V
Allele 2: G848S

Allelic information known

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143848
Residue A143
Cluster assignment:
Cluster 1
Cluster description:Polymerase active site and environs
Subcluster:1B (residues 136-143)
Subcluster description:Outer layer of the holoenzyme, contacts subclusters 1C, 1G, and 1F
POLG domain:N-Terminal 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
A143V
Number of patients:

(with A143V)

8
Found as the only mutation:13% of entries (1 patient)
Found together with:
Non-allelic
50
G848S
13
A467T
13
L304R
13
W748S
13
E1143G
%
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 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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