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Mutation Query
Allele 1:G517V
Allele 2: D1196N

Allelic information known

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5171196
Residue G517
Cluster assignment:
Cluster 2
Cluster description:Upstream DNA binding channel
Subcluster:2B (residues 496-517)
Subcluster description:Subcluster 2B maps to the region of the AID that is predicted to contact the upstream DNA duplex.
POLG domain:Spacer domain
Residue D1196
Cluster assignment:
Cluster 1
Cluster description:Polymerase active site and environs
Subcluster:1G (residues 1157-1196)
Subcluster description:Subcluster 1G (residues 1157-1196) maps to a C-terminal region of the palm subdomain, and forms an anti-parallel beta strand adjacent to the Pol A and Pol C motifs (Loh and Loeb, 2005).
POLG domain:Polymerase domain
Mutation Information
G517V
Number of patients:

(with G517V)

12
Found as the only mutation:67% of entries (8 patients)
Found together with:
Non-allelic
8
R1128H
8
D1196N
8
R722H
8
Y955C
%
Show Patient Data
D1196N
Number of patients:

(with D1196N)

1
Non-allelic with:G517V (100%)
Show Patient Data
Database patient data suggest that G517V is a known SNP.This mutation is unlikely to cause a POLG-related syndrome.

See full list of known POLG SNPs.

The following information is based on existing patient data and pathogenic cluster assignment.

Pathogenicity information for a patient with mutations in Clusters 1 and 2:
Age of onset information is extracted from a total of 93 patients and/ or patient families.
Age of onset
93-
47-
57
13
2
21
infantilechildhdjuvenileadult
61%14%2%23%
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 cluster2-cluster1 mutations
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Type in POLG mutations:
Allele 1:Allele 2:
Allelic information known
Allelic information not known
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Mutations in the same allele can be separated with a comma
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