POLG Pathogenicity Prediction Server

1 patient data entry in database for mutations H277L and R943C.

Entry
#

Mutations
allele 1	allele 2

Clinical representation

Symptoms

Age group

Age of onset

Age of patient

Age of death

Reference

331

R943C1

H277L3

left dominant hemi-parkinsonian features, bradykinesia, gait disturbance, resting tremor and postural instability, chronic progressive external ophthalomoplegia among mitochondrial myopathies

-	movement disorder (ataxia)

tremor

adult

n/a

Sato et al, 2011;

[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.

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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.

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