POLG Pathogenicity Prediction Server

Mutation Query

Allele 1:

P587L, T251I

Allele 2:

E1142G, W748S

Allelic information known

Refine query

Amino Acid Residue Information

2515877481142

Residue T251

Cluster assignment:

SNP

Cluster description:

Single Nucleotide Polymorphism

POLG domain:

Exonuclease domain

Residue P587

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

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 R1142

Cluster assignment:

SNP

Cluster description:

Single Nucleotide Polymorphism

POLG domain:

Polymerase domain

POLG sequence has amino acid R at position 1142 (not E).

Try query using R1142G

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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