Mutation Query
| | | | Allele 1: | S1095R | Allelic information known | | Refine query |
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| | | 1095 |  |  |
| | Residue S1095 | | Cluster assignment: | | | Cluster description: | Partitioning loop | | Subcluster: | 3D (residues 1047-1096) | | Subcluster description: | The partitioning loop, which is a novel structural module conserved in PolG (residues 1050-1095) that is located between the fingers and palm subdomains of the pol domain, and is not present in any other known DNA polymerase (Euro et al, 2011). | | POLG domain: | Polymerase domain |
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Mutation Information
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| S1095R | | | | Number of patients: (with S1095R) | 3 | | Found as the only mutation: | 33% of entries (1 patient) | | Non-allelic with: | A467T (33%) D1184N (33%) |  | Show Patient Data |
| Patient data are sorted by mutation combination frequency. | Reference: | Tang et al, 2011; | | Description: | Hypotonia, hepatic failure, elevated transaminases, respiratory deficiency/failure, FTT, developmental delay, GI reflux, delayed gastric emptying, dicarboxylic aciduria, high CSF protein, abnormal muscle histology, COX deficiency, vomiting. 12% mtDNA copy number in muscle, 42% mtDNA copy number in blood, ETC low. ptosis, poor head control. Central hypotonia, and absent deep tendon reflexes. He developed hypoxia, ascites, tachycardia, intermittent fevers, and sepsis. Some severely cytochrome oxidase-deficient muscle fibers were present. | | Mutations: | A467T, S1095R | | Age group: | infantile | | Age of Onset: 0.333, Age of Patient: n/a, Age of Death: 0.583 |
| Reference: | Blok et al, 2009; | | Description: | Failure to thrive, feeding problems, intestinal pseudo-obstruction, congenital deafness, demyelinating sensomotor neurpathy, impaired liver function, death at age 3. | | Mutations: | D1184N, S1095R | | Age group: | infantile | | Age of Onset: n/a, Age of Patient: n/a, Age of Death: 3 |
| Reference: | Wong et al, 2008; | | Description: | Onset 46 years with PEO, muscle weakness, optic atrophy, hearing loss, ptosis. | | Mutations: | S1095R | | Age group: | adult | | Age of Onset: 46, Age of Patient: n/a, Age of Death: n/a |
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