POLG Pathogenicity Prediction Server

2 patient data entries in database for mutations W748S and R953C.

Entry
#

Mutations
allele 1	allele 2

Clinical representation

Symptoms

Age group

Age of onset

Age of patient

Age of death

Reference

166

R953C1

W748S5

Peripheral neuropathy, CPEO, ptosis, COX deficiency, ragged red fibers, headaches/migraines, diarrhoea, lactic acidosis, hypotonia, ataxia, myoclonic seizures, exercise intolerance, muscle weakness, muscle cramps after exercise, optic atrophy, easy fatigability. 61% mtDNA copy number in muscle, 61% mtDNA copy number in blood.

-	lactic acidosis

-	myoclonic seizures

-	movement disorder (ataxia)

-	peripheral neuropathy

-	optic atrophy

-	ragged red fibers

-	muscle weakness

-	exercise intolerance

ptosis

PEO

hypotonic

-	headache/ migraine

adult

n/a

Tang et al, 2011;

[view data]

346

R953C1

W748S5

Exercise intolerance, muscle weakness, persistent diarrhea, intermittent vomiting, bilateral ptosis, cognitive impairment with poor recall and expressive language difficulty, proximal myopathy, axonal sensorimotor peripheral neuropathy

-	peripheral neuropathy

-	muscle weakness

-	exercise intolerance

myopathy

ptosis

vomiting

diarrhea

adult

n/a

Tang et al, 2012;

[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: 50.5
Std dev in onset in displayed cases: 0.5

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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