POLG Pathogenicity Prediction Server

Mutation Query

Allele 1:

W748S

Allele 2:

R869X

Allelic information known

Refine query

Amino Acid Residue Information

748869

Residue W748

Cluster assignment:

Cluster 5

Cluster description:

Putative protein-protein interactions

Subcluster:

5B (residues 737-749)

Subcluster description:

Located in the periphery of the IP subdomain of the spacer domain, distant from the DNA binding channel

POLG domain:

Spacer domain

Residue R869

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

R869X is not a valid mutation. Please check the query input.

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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