POLG Pathogenicity Prediction Server

POLG Pathogenicity Prediction Server

Mutation Query

Allele 1:

S305R

Allelic information known

Amino Acid Residue Information

305

Residue S305

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

Mutation Information

Number of patients:

(with S305R)

6

Found as the only mutation:

17% of entries (1 patient)

Found together with:

Non-allelic

%

Show Patient Data

Pathogenicity Information

Mutations in only a single POLG allele rarely cause POLG-related syndromes. The few known dominant mutations have consistently exhibited late/ adult disease onset in patients.For further information, please see our analysis of dominant POLG mutations, and the full list of dominant mutations.

Database patient data suggests that S305R is a recessive mutation.This mutation is unlikely to cause a POLG-related syndrome by itself.

See full list of putatively-dominant POLG 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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