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Mutation Query
Allele 1:A862T
Allele 2: R1081Q

Allelic information known

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8621081
Residue A862
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 R1081
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
A862T
Number of patients:

(with A862T)

7
Found together with:
Non-allelic
43
R964C
29
R1047W
14
R1081Q
14
H277L
%
Show Patient Data
R1081Q
Number of patients:

(with R1081Q)

2
Found as the only mutation:50% of entries (1 patient)
Non-allelic with:A862T (50%)
Show Patient Data
Database patient data is inconclusive about the dominant status of mutation R1081Q.

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 3:
Age of onset information is extracted from a total of 18 patients and/ or patient families.
Age of onset
18-
9-
9
2
2
5
infantilechildhdjuvenileadult
50%11%11%28%
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-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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