POLG Pathogenicity Prediction Server

1 patient data entry collated from reference Giordano et al, 2009.

Entry
#

Mutations
allele 1	allele 2

Clinical representation

Symptoms

Age group

Patient age

Age of onset

Age of death

G848S1

R227W4

Born with severe hypotonia, general muscle weakness, hearing loss, GI problems, mild cerbral atrophy, mtDNA depletion in muscle and GI, death via respiratory failure at 20 days.

-	muscle weakness

hypotonic

-	GI problems

-	respiratory deficiency

-	hearing loss

infantile

n/a

0.01

0.1

^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.

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Mutations Entry IDs Clusters Reference Residue range

Reference:

References in full format are accessible through the references page.

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