POLG Pathogenicity Prediction Server
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3 patient data entries in database for the exact mutation L304R.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupAge of onsetAge of patientAge of deathReference
678L304R3
SANDO syndrome, Sensory motor demyelinating neuropathy
-demyelinating neuropathy
childhood
n/a10n/aBindu et al, 2016;

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679L304R3
CPEO, Sensory motor axonal neuropathy
-demyelinating neuropathy
-PEO
adult
n/a26n/aBindu et al, 2016;

[view data]

680L304R3
Mitochondrial spinocerebellar ataxia epilepsy syndrome, motor axonal neuropathy
-epilepsy
-cerebellar ataxia
-movement disorder (ataxia)
-demyelinating neuropathy
childhood
n/a6n/aBindu et al, 2016;

[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: 3
Number of patient cases marked as outliers: 3 (cases excluded from avg: 678, 679, 680)

Search criteria for patient entries:
Mutations Entry IDs Clusters Reference Residue range
Mutations:
Allele 1:Allele 2:
Separate multiple mutations with commas.
Use "PNF" for non-missense mutations.
Match: Inclusive Exact
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