Mutation Query
| | | | Allele 1: | R722H | | Allele 2: | R722H | Allelic information known | | Refine query |
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| | | 722 |  |  |
| | Residue R722 | | Cluster assignment: | | | Cluster description: | Single Nucleotide Polymorphism | | POLG domain: | Spacer domain |
| Residue R722 | | Cluster assignment: | | | Cluster description: | Single Nucleotide Polymorphism | | POLG domain: | Spacer domain |
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Mutation Information
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| R722H | | | | Number of patients: (with R722H) | 17 | | Found as the only mutation: | 59% of entries (10 patients) | | Found together with: | |  | Show Patient Data |
| Patient data are sorted by mutation combination frequency. | Reference: | Luoma et al, 2007; | | Description: | Parkinsons disease, tremor, rigidity, hypo-/ bradykinesia. Hypertension | | Mutations: | | | SNPs: | R722H | | Age group: | adult | | Age of Onset: 57, Age of Patient: 67, Age of Death: n/a |
| Reference: | Komulainen et al, 2010; | | Description: | Cataract, balance disturbances, retinal rupture, tinnitus, unilateral deafness | | Mutations: | | | SNPs: | R722H | | Age group: | adult | | Age of Onset: n/a, Age of Patient: n/a, Age of Death: n/a |
| Reference: | Komulainen et al, 2010; | | Description: | Coronary heart disease, delayed puberty, sensorineural hearing loss | | Mutations: | | | SNPs: | R722H | | Age group: | adult | | Age of Onset: n/a, Age of Patient: n/a, Age of Death: n/a |
| Reference: | Komulainen et al, 2010; | | Description: | Delayed puberty, hypogonadism, transient vertigo, visual field defect | | Mutations: | | | SNPs: | R722H | | Age group: | adult | | Age of Onset: n/a, Age of Patient: n/a, Age of Death: n/a |
Back to top | Reference: | Komulainen et al, 2010; | | Description: | Diabetes mellitus, hypothyreosis, cerebral infarction, hypertension, hypercholesterolemia, learning difficulties | | Mutations: | | | SNPs: | R722H | | Age group: | adult | | Age of Onset: n/a, Age of Patient: n/a, Age of Death: n/a |
| Reference: | Komulainen et al, 2010; | | Description: | Hypothyreosis, gestational diabetes mellitus | | Mutations: | | | SNPs: | R722H | | Age group: | adult | | Age of Onset: n/a, Age of Patient: n/a, Age of Death: n/a |
| Reference: | Komulainen et al, 2010; | | Description: | Mental retardation | | Mutations: | | | SNPs: | R722H | | Age group: | adult | | Age of Onset: n/a, Age of Patient: n/a, Age of Death: n/a |
| Reference: | Komulainen et al, 2010; | | Description: | Premature puberty, short stature, fertility problems, gestational diabetes mellitus | | Mutations: | | | SNPs: | R722H | | Age group: | juvenile | | Age of Onset: n/a, Age of Patient: n/a, Age of Death: n/a |
| Reference: | Komulainen et al, 2010; | | Description: | Tinnitus, benign cardiac arrhythmias | | Mutations: | | | SNPs: | R722H | | Age group: | adult | | Age of Onset: n/a, Age of Patient: n/a, Age of Death: n/a |
Back to top | Reference: | Komulainen et al, 2010; | | Description: | Transient hypertension, benign cardiac arrhythmias, fertility problems | | Mutations: | | | SNPs: | R722H | | Age group: | adult | | Age of Onset: n/a, Age of Patient: n/a, Age of Death: n/a |
| Reference: | Komulainen et al, 2010; | | Description: | Mild dementia, sensorineural hearing impairment, diabetes mellitus, osteoarthritis, hypertension, coronary heart disease, areflexia due to diabetic neuropathy. She had a mild left motor hemiparesis at the age of 74 years due to a lacunar brain infarct. Patient A3. Elder sister of patient A1. | | Mutations: | | | SNPs: | R722H, R722H | | Age group: | adult | | Age of Onset: 74, Age of Patient: 86, Age of Death: n/a |
| Reference: | Komulainen et al, 2010; | | Description: | Moderate dementia, sensorineural hearing impairment, occasional headaches, bilateral cataract, chronic gastritis. Occasional headaches started at 30 years old. Patient A2. Younger sister of patient A1. | | Mutations: | | | SNPs: | R722H, R722H | | Age group: | adult | | Age of Onset: 30, Age of Patient: 78, Age of Death: n/a |
| Reference: | Komulainen et al, 2010; | | Description: | Severe dementia, sensorineural hearing impairment, diabetes mellitus, PEO, dysphagia, neuropathic pain in the legs, multiple mtDNA deletions in muscle. Clear age of onset not reported, hearing aid at 72 years. Patient A1. | | Mutations: | | | SNPs: | R722H, R722H | | Age group: | adult | | Age of Onset: 72, Age of Patient: 83, Age of Death: n/a |
| Reference: | Komulainen et al, 2010; | | Description: | mental retardation, psychiatric symptoms, mild bilateral ptosis and epilepsy, Seizures occurred at age 11 years, and focal generalized epilepsy was diagnosed. | | Mutations: | W748S | | SNPs: | E1143G, R722H | | Age group: | childhood | | Age of Onset: 11, Age of Patient: 22, Age of Death: n/a |
Back to top | Reference: | Bolszak et al, 2009; | | Description: | Onset at 4 months with generalized tonic-clonic seizure, evolved to status epilepticus, treated with valproate, Progressive encephalopathy, and psychomotor development deficient by age 2, mentally retarded, ataxic and hyperkinetic. At the last follow-up visit at age 17 years, he was severely retarded, autistic, and ataxic. During 12 months of valproate treatment serum alanine aminotransferase (ALAT) increased from 29 to 71 U/L (normal < 40 U/L), and after discontinuation of the medication, ALAT values varied between 5 and 12 U/L. | | Mutations: | G517V | | SNPs: | R722H | | Age group: | infantile | | Age of Onset: 0.33, Age of Patient: 17, Age of Death: n/a |
| Reference: | Ylönen et al, 2013; | | Description: | late onset parkinsons. Tremor. Hyperreflexia. | | Mutations: | | | SNPs: | R722H, Y831C | | Age group: | adult | | Age of Onset: 56, Age of Patient: n/a, Age of Death: n/a |
| Reference: | Luoma et al, 2007; | | Description: | Parkinsons disease, tremor, rigidity, hypo-/ bradykinesia. | | Mutations: | | | SNPs: | Q1236H, R722H | | Age group: | adult | | Age of Onset: 66, Age of Patient: 77, Age of Death: n/a |
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Both genes contain only non-pathogenic SNPs according to the cluster analysis, and probability of pathogenicity can be considered to be low. The following information is based on PON-P2 mutation pathogenicity prediction software results. The PON-P2 sequence analysis prediction results below may or may not support this conclusion, but they should not be trusted on their own. All currently known pathogenic POLG-mutations are found within the assigned pathogenic clusters. Gene1: | PON-P2 predictions results for R722H | | Pathogenicity: | Neutral | | Probability: | 0.057 | | Standard Error: | 0.022 | | Prediction result is based on sequence analysis only and may not be accurate. |
Gene2: | PON-P2 predictions results for R722H | | Pathogenicity: | Neutral | | Probability: | 0.057 | | Standard Error: | 0.022 | | Prediction result is based on sequence analysis only and may not be accurate. |
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