Mutation Query
| | | | Allele 1: | S1104C | Allelic information known | | Refine query |
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| | | 1104 |  |  |
| | Residue S1104 | | Cluster assignment: | | | Cluster description: | Polymerase active site and environs | | Subcluster: | 1F (residues 1098-1138) | | Subcluster description: | This subcluster forms a segment of the pol active site and contains two highly conserved motifs that are found in all family A polymerases, the Pol C motif and motif 6 (Loh and Loeb, 2005). | | POLG domain: | Polymerase domain |
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Mutation Information
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| S1104C | | | | Number of patients: (with S1104C) | 4 | | Found as the only mutation: | 25% of entries (1 patient) | | Non-allelic with: | G848S (50%) A467T (25%) |  | Show Patient Data |
| Patient data are sorted by mutation combination frequency. | Reference: | Lax et al, 2012b; | | Description: | Ataxia, Dementia, Peripheral neuropathy, Areflexia, Myopathy, fatigue, depression, Ophthalmoplegia, Dysarthria, Osteoporosis, arPEO. | | Mutations: | G848S, S1104C | | Age group: | adult | | Age of Onset: 22, Age of Patient: 59, Age of Death: n/a |
| Reference: | Betts-Henderson et al, 2009; | | Description: | The patient first presented at the age of 22 years with left-sided ptosis, which slowly progressed over the next 20 years to an almost complete ophthalmoplegia. He developed proximal muscle weakness at age 50 and his first Parkinsonian features at age 51. rigidity, tremor, bradykinesia and difficulty performing fine motor tasks. Proximal myopathy. sensorimotor neuropathy. Dysphagia. | | Mutations: | G848S, S1104C | | Age group: | adult | | Age of Onset: 22, Age of Patient: 57, Age of Death: 59 |
| Reference: | Agostino et al, 2003; | | Description: | PEO, bilateral ptosis, severe limita- tion 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: | A467T, S1104C | | Age group: | adult | | Age of Onset: 48, 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: | S1104C | | Age group: | adult | | Age of Onset: 42, Age of Patient: n/a, Age of Death: n/a |
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