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Mutation Query
Allele 1:A467T
Allele 2: E1143G, Q497H, W748S

Allelic information known

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497
4677481143
Residue A467
Cluster assignment:
Cluster 2
Cluster description:Upstream DNA binding channel
Subcluster:2A (residues 463-468)
Subcluster description:Subcluster 2A maps to a region of the thumb subdomain of the pol domain at the accessory subunit interface where A467T, N468D and L463F are positioned.
POLG domain:Polymerase domain
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 E1143
Cluster assignment:
SNP
Cluster description:Single Nucleotide Polymorphism
POLG domain:Polymerase domain
Mutation Information
A467T
Number of patients:

(with A467T)

236
Found as the only mutation:3% of entries (6 patients)
Found together with:
Non-allelic
19
A467T
19
W748S
10
G848S
8
PNF
7
E1143G
6
T914P
3
G303R
3
R852C
2
L304R
2
L966R
%
Also:
T251I (1%) P587L (1%) S305R (1%)
G11D (1%) A957P (1%) R627W (1%)
R574W (1%) F749S (1%) R227P (1%)
C418R (1%) P1073L (1%) C1188R (1%)
G737R (1%) R1138C (1%) R627Q (1%)
Q1236H (1%) R232H (1%) H277L (1%)
R3P (1%) F88L (0%) A143V (0%)
R227W (0%) R417T (0%) L428P (0%)
S1095R (0%) R807C (0%) R807H (0%)
L886P (0%) K1191N (0%) L605R (0%)
G588D (0%) H754Q (0%) R597W (0%)
L1113P (0%) P625R (0%) S1104C (0%)
G268A (0%) R275Q (0%) R1096C (0%)
K561M (0%) Q879H (0%) M919T (0%)
S1104F (0%) Q497H (0%)
Allelic
1
PNF
0
T885S
%

PNF=Putatively Non-Functional enzyme

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
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
Database patient data is inconclusive about the dominant status of mutation A467T.

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 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 A467T and a cluster 2 mutation:
Age of onset information is extracted from a total of 7 patients and/ or patient families.
Age of onset
7-
4-
5
1
0
1
infantilechildhdjuvenileadult
71%14%0%14%
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 A467T-cluster2 mutations
Symptoms described in patients with cluster2-cluster2 mutations
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