POLG Pathogenicity Prediction Server

2 patient data entries in database for mutations A467T and R3P.

Entry
#

Mutations
allele 1	allele 2

Clinical representation

Symptoms

Age group

Age of onset

Age of patient

Age of death

Reference

572

R3P

A467T2

ptosis, opthalmoplegia, dysphonia, dysphagia, muscle weakness, loss of weight, distal sensory neuropathy, areflexia.

-	muscle weakness

ptosis

PEO

dysphagia

areflexia

adult

n/a

Van Goethem et al, 2001;

[view data]

573

R3P

A467T2

ptosis, opthalmoplegia, dysphonia, dysphagia, distal sensory neuropathy, areflexia.

ptosis

PEO

dysphagia

areflexia

adult

n/a

Van Goethem et al, 2001;

[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: 25.0
Std dev in onset in displayed cases: 5.0

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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