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Mutation Query
Allele 1:A467T
Allele 2: R1096C

Allelic information known

Refine query
4671096
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 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
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
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 A467T.

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 A467T and a cluster 3 mutation:
Age of onset information is extracted from a total of 24 patients and/ or patient families.
Age of onset
24-
12-
14
2
3
5
infantilechildhdjuvenileadult
58%8%13%21%
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-cluster3 mutations
Symptoms described in patients with cluster2-cluster3 mutations
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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