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

Allelic information known

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11748852
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
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
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.

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)
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Allele 1:Allele 2:
Allelic information known
Allelic information not known
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