Mutation Query
| | | | Allele 1: | P1073L | Allelic information known | | Refine query |
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| | | 1073 |  |  |
| | Residue P1073 | | 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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| P1073L | | | | Number of patients: (with P1073L) | 7 | | Found as the only mutation: | 14% of entries (1 patient) | | Found together with: | |  | Show Patient Data |
| Patient data are sorted by mutation combination frequency. | Reference: | Kurt et al, 2010; | | Description: | Psychomotor delay, seizures, liver disease, GI dysmotility, lactic acidosis, ptosis, hearing loss. | | Mutations: | A467T, P1073L | | Age group: | infantile | | Age of Onset: 0.01, Age of Patient: n/a, Age of Death: 0.8 |
| Reference: | Kurt et al, 2010; | | Description: | Psychomotor delay, status epilepticus, liver disease, GI dysmotility, lactic acidosis, optic atrophy. | | Mutations: | A467T, P1073L | | Age group: | infantile | | Age of Onset: 0.01, Age of Patient: n/a, Age of Death: 3 |
| Reference: | Kurt et al, 2010; | | Description: | pschomotor delay, seizures, liver disease, GI dysmotility, lactic acidosis. | | Mutations: | G848S, P1073L | | Age group: | infantile | | Age of Onset: 0.4, Age of Patient: n/a, Age of Death: 0.9 |
| Reference: | Tang et al, 2011; | | Description: | Hypotonia, FTT, gastro-oesophaeal reflux. 36% mtDNA copy number in muscle, 62% mtDNA copy number in blood. | | Mutations: | G848S, P1073L | | Age group: | infantile | | Age of Onset: n/a, Age of Patient: 2, Age of Death: n/a |
Back to top | Reference: | Kurt et al, 2010; | | Description: | Psychomotor delay, status epilepticus, liver disease, lactic acidosis, ADHD, mental retardation. | | Mutations: | P1073L, W748S | | Age group: | infantile | | Age of Onset: 0.01, Age of Patient: n/a, Age of Death: 13 |
| Reference: | Rouzier et al, 2013; | | Description: | Myopathy, myoclonic epilepsy, renal tubulopathy, muscle weakness, amyotrophy, myoclonic epilepsy and lipid accumulation. Cerebrospinal fluid and blood lactate concentrations were elevated. Muscle biopsy showed lipid myopathy with no biochemical RC deficiency and neither depletion nor deletions of mtDNA. | | Mutations: | P1073L | | Age group: | childhood | | Age of Onset: 5, Age of Patient: n/a, Age of Death: n/a |
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