POLG Pathogenicity Prediction Server

1 patient data entry collated from reference Deschauer et al, 2007.

Entry
#

Mutations
allele 1	allele 2

Clinical representation

Symptoms

Age group

Patient age

Age of onset

Age of death

145

G848S1

R627Q5

vomiting, headache, sensory ataxia, areflexia, focal seizures, status epilepticus. MELAS.

-	status epilepticus

-	focal seizures

-	movement disorder (ataxia)

-	sensory ataxia

-	headache/ migraine

vomiting

areflexia

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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