Mutation Query
| | | | Allele 1: | W312R | | Allele 2: | W312R | Allelic information known | | Refine query |
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| | | 312 |  |  |
| | Residue W312 | | Cluster assignment: | | | Cluster description: | Partitioning loop | | Subcluster: | 3B (residues 303-319) | | Subcluster description: | A helix-coil-helix module (residues 295-312) located in the Exo domain that has been termed the "orienter" module | | POLG domain: | Exonuclease domain |
| Residue W312 | | Cluster assignment: | | | Cluster description: | Partitioning loop | | Subcluster: | 3B (residues 303-319) | | Subcluster description: | A helix-coil-helix module (residues 295-312) located in the Exo domain that has been termed the "orienter" module | | POLG domain: | Exonuclease domain |
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Mutation Information
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| W312R | | | | Number of patients: (with W312R) | 4 | | Found as the only mutation: | 25% of entries (1 patient) | | Non-allelic with: | W312R (50%) R574W (25%) |  | Show Patient Data |
| Patient data are sorted by mutation combination frequency. | Reference: | Di Fonzo et al, 2003; | | Description: | PEO, sensory-motor polyneuropathy, dysphagia. | | Mutations: | W312R, W312R | | Age group: | adult | | Age of Onset: 57, Age of Patient: n/a, Age of Death: n/a |
| Reference: | Del Bo et al, 2003; | | Description: | PEO, complicated by dysphagia, myopathy, sensorimotor polyneuropathy and dysphagia. | | Mutations: | W312R, W312R | | Age group: | adult | | Age of Onset: n/a, Age of Patient: 57, Age of Death: n/a |
| Reference: | Horvath et al, 2006; | | Description: | PEO +dysphagia/myopathy. | | Mutations: | R574W, W312R | | Age group: | adult | | Age of Onset: 37, Age of Patient: n/a, Age of Death: n/a |
| Reference: | Agostino et al, 2003; | | Description: | PEO, bilateral ptosis, severe limitation of ocular motility, and a mosaic distribution of ragged-red and cytochrome c oxidase–negative fibers in the muscle biopsy. All patients had multiple deletions of muscle mtDNA. | | Mutations: | W312R | | Age group: | adult | | Age of Onset: 39, Age of Patient: n/a, Age of Death: n/a |
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The following information is based on existing patient data and pathogenic cluster assignment.
Pathogenicity information for a patient with mutations in Clusters 3 and 3: Age of onset information is extracted from a total of 21 patients and/ or patient families. | Age of onset | | |
21- 11- | 10
| 6
| 2
| 3
| | | infantile | childhd | juvenile | adult | | | 48% | 29% | 10% | 14% | |
All mutations mapping within the pathogenic clusters are at high risk for pathogenicity. In general, a patient must have a pathogenic mutation in both of his/ her POLG genes to develop a POLG-related syndrome. | Symptoms described in patients with cluster3-cluster3 mutations | |
| Symptoms in patients with combination
cluster3:cluster3 | | PEO | 42.9% | | Epilepsy | 33.3% | | Ptosis | 33.3% | | Encephalopathy | 33.3% | | Developmental delay | 33.3% | | Lactic acidosis | 23.8% | | Movement disorder (ataxia) | 19.0% | | Peripheral neuropathy | 19.0% | | Muscle weakness | 19.0% | | Ragged red fibers | 14.3% | | Exercise intolerance | 14.3% | | Dysphagia | 14.3% | | Myoclonic seizures | 9.5% | | Polyneuropathy | 9.5% | | Abnormal muscle histology | 9.5% | | Myopathy | 9.5% | | Liver failure | 9.5% | | Hypotonic | 9.5% | | Dementia | 9.5% | | CPK abnormalities | 9.5% | | +9 other symptoms in under 5.0% of the patients |
| | Data gathered from clinical descriptions for 21 patients |
| Symptoms by group | | CPEO | 52.4% | | Developmental Delay | 42.9% | | Myopathy | 42.9% | | Seizures | 38.1% | | Hepatopathy | 33.3% | | Neuropathy | 28.6% | | Alpers syndrome | 23.8% | | CNS symptoms | 23.8% | | Ataxia | 19.0% | | Hypotonia | 9.5% | | Other | 9.5% | | Unknown | 4.8% |
| | [Show grouping information] |
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