POLG Pathogenicity Prediction Server

2 patient data entries in database for mutations R627Q,G11D.

Entry
#

Mutations
allele 1	allele 2

Clinical representation

Symptoms

Age group

Age of onset

Age of patient

Age of death

Reference

625

G11D
R627Q5

R852C1

Seizures, PEO, Ataxia Neuropathy Spectrum, Stroke, chorea, ataxia, ptosis, retinitis pigmentosa, liver transplant

-	movement disorder (ataxia)

ptosis

PEO

stroke

juvenile

n/a

Wong et al, 2008;

[view data]

628

G11D
R627Q5

R852C1

Ataxia Neuropathy Spectrum, Seizures, PEO, lactic acidosis, stroke, chorea, ataxia, ptosis, retinitis pigmentosa, liver transplans

-	lactic acidosis

-	movement disorder (ataxia)

ptosis

PEO

stroke

juvenile

n/a

Wong et al, 2008;

[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: 15.0
Std dev in onset in displayed cases: 0.0

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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