POLG Pathogenicity Prediction Server

Mutation Query

Allele 1:

E1163G

Allele 2:

E1143G, W748S

Allelic information known

Refine query

Amino Acid Residue Information

1163

7481143

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 E1143

Cluster assignment:

SNP

Cluster description:

Single Nucleotide Polymorphism

POLG domain:

Polymerase domain

Residue M1163

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

POLG sequence has amino acid M at position 1163 (not E).

Try query using M1163G

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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