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Mutation Query
Allele 1:E1143G, Q497H, W748S
Allele 2: G848S

Allelic information known

Refine query
4977488481143
Residue Q497
Cluster assignment:
Cluster 2
Cluster description:Upstream DNA binding channel
Subcluster:2B (residues 496-517)
Subcluster description:Subcluster 2B maps to the region of the AID that is predicted to contact the upstream DNA duplex.
POLG domain:Spacer 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 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
Residue E1143
Cluster assignment:
SNP
Cluster description:Single Nucleotide Polymorphism
POLG domain:Polymerase domain
Mutation Information
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
Q497H
Number of patients:

(with Q497H)

8
Found together with:
Non-allelic
50
G848S
25
W748S
25
Q497H
25
E1143G
13
R852C
13
A467T
%
Allelic
100
W748S
100
E1143G
%
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
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
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 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 mutations in Clusters 1 and 2:
Age of onset information is extracted from a total of 93 patients and/ or patient families.
Age of onset
93-
47-
57
13
2
21
infantilechildhdjuvenileadult
61%14%2%23%
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 cluster2-cluster1 mutations
Prediction results for E1143G gene1, 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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