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Mutation Query
Allele 1:G848S
Allele 2: S1104C

Allelic information known

Refine query
8481104
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 S1104
Cluster assignment:
Cluster 1
Cluster description:Polymerase active site and environs
Subcluster:1F (residues 1098-1138)
Subcluster description:This subcluster forms a segment of the pol active site and contains two highly conserved motifs that are found in all family A polymerases, the Pol C motif and motif 6 (Loh and Loeb, 2005).
POLG domain:Polymerase domain
Mutation Information
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
S1104C
Number of patients:

(with S1104C)

4
Found as the only mutation:25% of entries (1 patient)
Non-allelic with:G848S (50%) A467T (25%)
Show Patient Data
Database patient data is inconclusive about the dominant status of mutation S1104C.

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 mutations in Clusters 1 and 1:
Age of onset information is extracted from a total of 20 patients and/ or patient families.
Age of onset
20-
10-
2
7
3
8
infantilechildhdjuvenileadult
10%35%15%40%
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 cluster1-cluster1 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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