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Mutation Query
Allele 1:W312R
Allele 2: R574W

Allelic information known

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Residue W312
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 R574
Cluster assignment:
Cluster 2
Cluster description:Upstream DNA binding channel
Subcluster:2C (residues 561-617)
Subcluster description:Subcluster 2C contains motif 1, which in Pol I was shown to fold into a loop that binds DNA in the channel (Loh and Loeb, 2005). Motif 1, together with subcluster 2D, form the major face of the putative DNA binding channel.
POLG domain:Spacer domain
Mutation Information
Number of patients:

(with W312R)

Found as the only mutation:25% of entries (1 patient)
Non-allelic with:W312R (50%) R574W (25%)
Show Patient Data
Number of patients:

(with R574W)

Non-allelic with:A467T (75%) W312R (25%)
Show Patient Data
The following information is based on existing patient data and pathogenic cluster assignment.

Pathogenicity information for a patient with mutations in Clusters 2 and 3:
Age of onset information is extracted from a total of 33 patients and/ or patient families.
Age of onset
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-cluster2 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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