POLG Pathogenicity Prediction Server

1 patient data entry in database for mutations W748S and L304R.

Entry
#

Mutations
allele 1	allele 2

Clinical representation

Symptoms

Age group

Age of onset

Age of patient

Age of death

Reference

W748S5
E1143G

L304R3

SCAE, age of onset 20, death at 27, ptosis and multiple deletions in muscle.

ptosis

adult

n/a

Naimi et al, 2006;

[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.

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.

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