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Mutation Query
Allele 1:W748S
Allele 2: R1096C

Allelic information known

Refine query
7481096
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 R1096
Cluster assignment:
Cluster 3
Cluster description:Partitioning loop
Subcluster:3D (residues 1047-1096)
Subcluster description:The partitioning loop, which is a novel structural module conserved in PolG (residues 1050-1095) that is located between the fingers and palm subdomains of the pol domain, and is not present in any other known DNA polymerase (Euro et al, 2011).
POLG domain:Polymerase domain
Mutation Information
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
R1096C
Number of patients:

(with R1096C)

15
Found as the only mutation:7% of entries (1 patient)
Found together with:
Non-allelic
53
R1096C
13
Q1236H
7
P648R
7
G848S
7
T914P
7
A467T
7
W748S
7
L591F
%
Allelic
13
Q1236H
%
Show Patient Data
Database patient data is inconclusive about the dominant status of mutation W748S.

See full list of putatively-dominant POLG mutations

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

Pathogenicity information for a patient with mutation W748S and a cluster 3 mutation:
Age of onset information is extracted from a total of 4 patients and/ or patient families.
Age of onset
4-
2-
2
0
0
2
infantilechildhdjuvenileadult
50%0%0%50%
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-cluster3 mutations
Symptoms described in patients with cluster5-cluster3 mutations
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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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