POLG Pathogenicity Prediction Server

1 patient data entry collated from reference Santoro et al, 2006.

Entry
#

Mutations
allele 1	allele 2

Clinical representation

Symptoms

Age group

Patient age

Age of onset

Age of death

179

G763R2

G763R2

PEO-SANDO, Onset at age 20 with proximal and distal limb muscle weakness, bilateral ptosis, dysphonia, and dysphagia.

-	muscle weakness

ptosis

PEO

dysphagia

adult

n/a

^1-5 pathogenic cluster assignment of mutations. Mutations displayed without a superscript number are outside of the assigned pathogenic clusters. See cluster definitions for details.

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Mutations Entry IDs Clusters Reference Residue range

Reference:

References in full format are accessible through the references page.

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