POLG Pathogenicity Prediction Server

2 patient data entries in database for mutations A862T and R1047W.

Entry
#

Mutations
allele 1	allele 2

Clinical representation

Symptoms

Age group

Age of onset

Age of patient

Age of death

Reference

194

R1047W3

A862T1

PEO with ataxia, SCA-like phenotype in siblings, multiple deletions in muscle mtDNA detected via LPCR. 3% COX deficient fibers.

-	movement disorder (ataxia)

PEO

adult

n/a

Stewart et al, 2009;

[view data]

357

R1047W3

A862T1

CPEO, Ptosis, Peripheral neuropathy, COX-deficient fibers, presence of mitochondrial dna deletions in muscle, ataxia, dysarthria, Axonal sensory neuropathy /neuronopathy, Distal and proximal neurogenic change.

-	movement disorder (ataxia)

-	peripheral neuropathy

ptosis

PEO

-	dysarthria

adult

n/a

Lax et al, 2012a;

[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: 41.5
Std dev in onset in displayed cases: 19.5

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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