POLG Pathogenicity Prediction Server

2 patient data entries in database for mutations R627Q and G848S.

Entry
#

Mutations
allele 1	allele 2

Clinical representation

Symptoms

Age group

Age of onset

Age of patient

Age of death

Reference

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

Deschauer et al, 2007;

[view data]

147

G848S1

R627Q5

At 35 years of age, dysarthria/dysphagia, sensory neuropathy, PEO, distal muscle wasting, phobia anxiety disorder, mild cerebellar atrophy (MRI)

-	cerebellar atrophy

PEO

dysphagia

-	dysarthria

-	distal muscle wasting

adult

n/a

Schulte et al, 2009;

[view data]

^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.

Number of displayed patient cases: 2
Avg age of onset in displayed cases: 25.0
Std dev in onset in displayed cases: 4.0

Search criteria for patient entries:

Mutations Entry IDs Clusters Reference Residue range

Reference:

References in full format are accessible through the references page.

Mutations:

Allele 1:	Allele 2:

Separate multiple mutations with commas. Use "PNF" for non-missense mutations.

Match: Inclusive Exact

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