POLG Pathogenicity Prediction Server

2 patient data entries in database for mutation R309L.

Entry
#

Mutations
allele 1	allele 2

Clinical representation

Symptoms

Age group

Age of onset

Age of patient

Age of death

Reference

603

R309L3

T251I
P587L2

PEO. cytochrome c oxidase negative ragged red fibers, and multiple mtDNA deletions in skeletal muscle.

-	ragged red fibers

-	cox-negative

PEO

adult

n/a

Lamantea et al, 2002;

[view data]

653

Q968E

R309L3

progressive external ophthalmoplegia (PEO) and negative family history. At the age of 38, she observed impaired eye movements and ptosis. Skeletal muscle biopsy disclosed ragged red fibres. Multiple mtDNA deletions were present in muscle tissue.

-	ragged red fibers

ptosis

PEO

-	ophthalmoplegia

-	external ophthalmoplegia

adult

n/a

Kaliszewska et al, 2015;

[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

:.: Privacy Statement :.: Disclaimer :.: Contact Information :.: