POLG Pathogenicity Prediction Server
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8 patient data entries collated from reference Luoma et al, 2007.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupPatient ageAge of onsetAge of death
268E1143G
Parkinsons disease, tremor, rigidity, hypo-/ bradykinesia. Also had Histiocytosis and breast cancer
-parkinson's disease
-tremor
adult
6747n/a
269Q43R
Parkinsons disease, tremor, rigidity, hypo-/ bradykinesia. Larynx spasms, urinary incontinence, cervical dystonia
-parkinson's disease
-dystonia
-tremor
adult
6254n/a
270Q43R
Parkinsons disease, tremor, rigidity, hypo-/ bradykinesia. Orthostatic hypotension
-parkinson's disease
-tremor
adult
8267n/a
271Q49E
L392V
Parkinsons disease, tremor, rigidity, hypo-/ bradykinesia. Diabetes mellitus type II
-parkinson's disease
-tremor
adult
6958n/a
272R722H
Parkinsons disease, tremor, rigidity, hypo-/ bradykinesia. Hypertension
-parkinson's disease
-tremor
adult
6757n/a
273R722H
Q1236H
Parkinsons disease, tremor, rigidity, hypo-/ bradykinesia.
-parkinson's disease
-tremor
adult
7766n/a
274Y831C
Q1236H
Parkinsons disease, tremor, rigidity, hypo-/ bradykinesia. Ischemic Heart Disease, atrial fibrillation, hypertension
-parkinson's disease
-tremor
adult
7970n/a
275S1230F
Parkinsons disease, tremor, rigidity, hypo-/ bradykinesia. Late dementia and visual hallucinations, Diabetes Mellitus type II
-parkinson's disease
-dementia
-tremor
adult
7465n/a

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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