POLG Pathogenicity Prediction Server
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10 patient data entries in database for the exact mutation R722H.

Entry
#
Mutations
allele 1allele 2
Clinical representationSymptomsAge groupAge of onsetAge of patientAge of deathReference
272R722H
Parkinsons disease, tremor, rigidity, hypo-/ bradykinesia. Hypertension
-parkinson's disease
-tremor
adult
5767n/aLuoma et al, 2007;

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299R722H
Diabetes mellitus, hypothyreosis, cerebral infarction, hypertension, hypercholesterolemia, learning difficulties
-no known symptoms
adult
n/an/an/aKomulainen et al, 2010;

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300R722H
Transient hypertension, benign cardiac arrhythmias, fertility problems
-arrhythmia
adult
n/an/an/aKomulainen et al, 2010;

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301R722H
Hypothyreosis, gestational diabetes mellitus
-no known symptoms
adult
n/an/an/aKomulainen et al, 2010;

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302R722H
Mental retardation
-retardation
adult
n/an/an/aKomulainen et al, 2010;

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303R722H
Premature puberty, short stature, fertility problems, gestational diabetes mellitus
-no known symptoms
juvenile
n/an/an/aKomulainen et al, 2010;

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304R722H
Tinnitus, benign cardiac arrhythmias
-arrhythmia
adult
n/an/an/aKomulainen et al, 2010;

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305R722H
Cataract, balance disturbances, retinal rupture, tinnitus, unilateral deafness
-no known symptoms
adult
n/an/an/aKomulainen et al, 2010;

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306R722H
Coronary heart disease, delayed puberty, sensorineural hearing loss
-hearing loss
adult
n/an/an/aKomulainen et al, 2010;

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307R722H
Delayed puberty, hypogonadism, transient vertigo, visual field defect
-no known symptoms
adult
n/an/an/aKomulainen et al, 2010;

[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: 10

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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