Mutation Query
| | | | Allele 1: | R232H | Allelic information known | | Refine query |
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| | | 232 |  |  |
| | Residue R232 | | Cluster assignment: | | | Cluster description: | Distal accessory subunit interface | | Subcluster: | 4A (residues 224-244) | | Subcluster description: | These mutations map to the exo domain along the distal accessory subunit interface. | | POLG domain: | Exonuclease domain |
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Mutation Information
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| R232H | | | | Number of patients: (with R232H) | 8 | | Found as the only mutation: | 38% of entries (3 patients) | | Found together with: | |  | Show Patient Data |
| Patient data are sorted by mutation combination frequency. | Reference: | Rouzier et al, 2013; | | Description: | Axonal sensorimotor neuropathy | | Mutations: | R232H | | Age group: | adult | | Age of Onset: 30, Age of Patient: n/a, Age of Death: n/a |
| Reference: | Rouzier et al, 2013; | | Description: | Axonal sensorimotor neuropathy, sensory ataxia, parkinsonism. | | Mutations: | R232H | | Age group: | adult | | Age of Onset: 25, Age of Patient: n/a, Age of Death: n/a |
| Reference: | Rouzier et al, 2013; | | Description: | Axonal sensorimotor neuropathy, sensory ataxia. Very mild axonal neuropathy identified in this patient's daughter. | | Mutations: | R232H | | Age group: | adult | | Age of Onset: 20, Age of Patient: n/a, Age of Death: n/a |
| Reference: | Hunter et al, 2011; | | Description: | Developmental Delay or Regression, hypotonia, vomiting, Abnormal Liver Enzymes, liver mtDNA depletion, clinical diagnosis of infantile hepatopathy | | Mutations: | A467T, H277L, R232H | | Age group: | infantile | | Age of Onset: 0.125, Age of Patient: n/a, Age of Death: 0.25 |
Back to top | Reference: | Hunter et al, 2011; | | Description: | Developmental Delay or Regression, motor paresis, hypotonia, vomiting, Abnormal Liver Enzymes, Serum Lactate, liver mtDNA depletion, clinical diagnosis of infantile hepatopathy | | Mutations: | A467T, H277L, R232H | | Age group: | infantile | | Age of Onset: 0.17, Age of Patient: n/a, Age of Death: 0.25 |
| Reference: | Taanman et al, 2009; | | Description: | Hypotonia, microcephaly, abnormal MRI, hepatomegaly, FTT, hypoglycaemia, ptosis. Onset at 6 months with Leighs syndrome and death at 23 months. 3% mtDNA copy number in muscle and 12% mtDNA copy number in liver. | | Mutations: | G848S, R232H | | Age group: | infantile | | Age of Onset: 0.5, Age of Patient: n/a, Age of Death: 2 |
| Reference: | Kollberg et al, 2006; | | Description: | Alpers, age of onset 6 months, age of death 13 months. 41% mtDNA copy number. During the first 6 months of life, he was considered healthy, but was irritable with colic-like symptoms. failure to thrive, delayed motor development. myoclonus. leftsided hemiparesis. | | Mutations: | R232H, W748S | | SNPs: | E1143G | | Age group: | infantile | | Age of Onset: 0.5, Age of Patient: n/a, Age of Death: 1.08 |
| Reference: | Harrower et al, 2008; | | Description: | Peripheral neuropathy, tremor, ataxia. | | Mutations: | G737R, R232H | | SNPs: | S64L | | Age group: | childhood | | Age of Onset: 10, Age of Patient: n/a, Age of Death: n/a |
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