POLG Pathogenicity Prediction Server

2 patient data entries in database for mutations G737R and R853W.

Entry
#

Mutations
allele 1	allele 2

Clinical representation

Symptoms

Age group

Age of onset

Age of patient

Age of death

Reference

190

G737R5

R853W1

Migraines in childhood, In 20s presented with peripheral sensory neuropathy and parkinsonisms.

-	sensomotor neuropathy

-	parkinson's disease

-	headache/ migraine

childhood

n/a

Davidzon et al, 2006;

[view data]

669

R853W1

G737R5

parkinsonism with dystonic toe and plantar flexion. Anxiety and generalized muscle weakness. Bilateral hypaesthesia of the lateral bottom of the foot and dorsal forefoot as well as bilateral distal pallhypaesthesia of the legs. Slight bilateral ptosis, slight axonal sensory polyneuropathy.

-	polyneuropathy

-	muscle weakness

ptosis

-	parkinson's disease

adult

n/a

Rempe et al, 2016;

[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

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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