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Mutation Query
Allele 1:R309H
Allele 2: R627Q

Allelic information known

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309627
Residue R309
Cluster assignment:
Cluster 3
Cluster description:Partitioning loop
Subcluster:3B (residues 303-319)
Subcluster description:A helix-coil-helix module (residues 295-312) located in the Exo domain that has been termed the "orienter" module
POLG domain:Exonuclease domain
Residue R627
Cluster assignment:
Cluster 5
Cluster description:Putative protein-protein interactions
Subcluster:5A (residues 623-648)
Subcluster description:Located in the periphery of the IP subdomain of the spacer domain, distant from the DNA binding channel
POLG domain:Spacer domain
Mutation Information
R309H
Number of patients:

(with R309H)

1
Non-allelic with:R627Q (100%)
Show Patient Data
R627Q
Number of patients:

(with R627Q)

14
Found together with:
Non-allelic
21
R1096H
21
R852C
14
G848S
14
A467T
7
S305R
7
R309H
7
G11D
%
Allelic
21
Q1236H
14
G11D
%
Show Patient Data
Database patient data is inconclusive about the dominant status of mutation R627Q.

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 3 and 5:
Age of onset information is extracted from a total of 15 patients and/ or patient families.
Age of onset
15-
8-
3
3
0
9
infantilechildhdjuvenileadult
20%20%0%60%
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 cluster3-cluster5 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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