POLG Pathogenicity Prediction Server

1 patient data entry in database for mutations D1184N and S1095R.

Entry
#

Mutations
allele 1	allele 2

Clinical representation

Symptoms

Age group

Age of onset

Age of patient

Age of death

Reference

221

D1184N1

S1095R3

Failure to thrive, feeding problems, intestinal pseudo-obstruction, congenital deafness, demyelinating sensomotor neurpathy, impaired liver function, death at age 3.

-	demyelinating neuropathy

-	failure to thrive

-	GI dysmotility

infantile

n/a

Blok et al, 2009;

[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.

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Reference:

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Separate multiple mutations with commas. Use "PNF" for non-missense mutations.

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