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Mutation Query
Allele 1:G11D, R852C
Allele 2: E1143G, W748S

Allelic information known

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117488521143
Residue G11
Cluster assignment:
SNP
Cluster description:Single Nucleotide Polymorphism
POLG domain:N-Terminal domain
Residue W748
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 R852
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
Residue E1143
Cluster assignment:
SNP
Cluster description:Single Nucleotide Polymorphism
POLG domain:Polymerase domain
Mutation Information
G11D
Number of patients:

(with G11D)

11
Found together with:
Non-allelic
36
W748S
27
A467T
18
E1143G
18
R852C
9
R627Q
%
Allelic
82
R852C
18
R627Q
%
Show Patient Data
R852C
Number of patients:

(with R852C)

15
Found together with:
Non-allelic
40
A467T
33
W748S
20
R627Q
20
E1143G
13
G11D
7
Q497H
%
Allelic
60
G11D
%
Show Patient Data
E1143G
Number of patients:

(with E1143G)

95
Found as the only mutation:1% of entries (1 patient)
Found together with:
Non-allelic
40
W748S
39
E1143G
18
A467T
13
G848S
5
PNF
3
R852C
2
G11D
2
Q497H
2
L244P
1
L304R
%
Also:
G737R (1%) R807C (1%) T914P (1%)
H1110Y (1%) Q1236H (1%) L752P (1%)
R232H (1%) R722H (1%) T885S (1%)
A143V (1%) E1163G (1%) R993C (1%)
S433C (1%)
Allelic
93
W748S
8
Q497H
2
A889T
1
R943C
1
G746S
1
Q879H
%

PNF=Putatively Non-Functional enzyme

Show Patient Data
W748S
Number of patients:

(with W748S)

181
Found together with:
Non-allelic
38
W748S
24
A467T
21
E1143G
10
G848S
4
PNF
4
T914P
3
R852C
2
G11D
2
P587L
1
T251I
%
Also:
S28C (1%) R953C (1%) R627W (1%)
Q497H (1%) L244P (1%) L304R (1%)
P589L (1%) R807C (1%) D930N (1%)
R852H (1%) H1110Y (1%) Q1236H (1%)
G888D (1%) G737R (1%) L752P (1%)
P1073L (1%) R232H (1%) R722H (1%)
R1096C (1%) A143V (1%) E1163G (1%)
R993C (1%) R869X (1%) V1106A (1%)
I1185N (1%)
Allelic
48
E1143G
4
Q497H
1
K561M
1
E1142G
%

PNF=Putatively Non-Functional enzyme

Show Patient Data
Database patient data is inconclusive about the dominant status of mutation R852C.

See full list of putatively-dominant POLG mutations

Database patient data is inconclusive about the dominant status of mutation W748S.

See full list of putatively-dominant POLG mutations

Database patient data suggest that G11D is a known SNP.This mutation is unlikely to cause a POLG-related syndrome.

See full list of known POLG SNPs.

Database patient data suggest that E1143G is a known SNP.This mutation is unlikely to cause a POLG-related syndrome.

See full list of known POLG SNPs.

The following information is based on existing patient data and pathogenic cluster assignment.

Pathogenicity information for a patient with mutation W748S and a cluster 1 mutation:
Age of onset information is extracted from a total of 37 patients and/ or patient families.
Age of onset
37-
19-
21
10
2
4
infantilechildhdjuvenileadult
57%27%5%11%
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 W748S-cluster1 mutations
Symptoms described in patients with cluster1-cluster5 mutations
Prediction results for G11D gene1, SNP (not considered for pathogenicity information)
Prediction results for E1143G gene2, SNP (not considered for pathogenicity information)
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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