Mutation Query
| | | Allele 1: | W312R | Allelic information known | Refine query |
| | 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 |
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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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