Mutation Query
| | | | Allele 1: | G11D, R852C | Allelic information known | | Refine query |
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| | | Residue G11 | | Cluster assignment: | | | Cluster description: | Single Nucleotide Polymorphism | | POLG domain: | N-Terminal domain |
| Residue R852 | | Cluster assignment: | | | Cluster description: | Polymerase active site and environs | | Subcluster: | 1D (residues 848-895) | | Subcluster description: | This subcluster forms a large portion of the pol active site and contains two highly conserved motifs that are found in all family A polymerases: the RR loop (motif 2) and motif A (Loh and Loeb, 2005). | | POLG domain: | Polymerase domain |
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Mutation Information
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| G11D | | | | Number of patients: (with G11D) | 11 | | Found together with: | |  | Show Patient Data |
| Patient data are sorted by mutation combination frequency. | Reference: | Ashley et al, 2008; | | Description: | reported as Alpers, onset at 2 years, presenting encephalopathy with epilepsy, hepatopathy. 22% mtDNA copy number in muscle. | | Mutations: | A467T, R852C | | SNPs: | G11D | | Age group: | infantile | | Age of Onset: 2.25, Age of Patient: n/a, Age of Death: n/a |
| Reference: | Stewart et al, 2009; | | Description: | Alpers, seizures, abnormal liver function, mild lactic acidosis, normal histology of COX fibers. | | Mutations: | A467T, R852C | | SNPs: | G11D | | Age group: | infantile | | Age of Onset: 1.25, Age of Patient: n/a, Age of Death: n/a |
| Reference: | Tang et al, 2011; | | Description: | Dementia/encephalopathy, infantile spasms, cerebral artery occlusion, headache/migraine, stroke, constipation. 74% mtDNA copy number in blood. | | Mutations: | R627Q, R852C | | SNPs: | G11D | | Age group: | juvenile | | Age of Onset: n/a, Age of Patient: 25, Age of Death: n/a |
| Reference: | Tang et al, 2011; | | Description: | Seizures, myoclonic seizures, intractable seizures, hepatic failure, elevated transaminases, Apnes/Hypoventilation, respiratory deficiency/failure, lactic acidosis, organic aciduria/tiglyglycine, low plasma carnitine, abnormal EEG. 108% mtDNA copy number in blood. | | Mutations: | A467T, R852C | | SNPs: | G11D | | Age group: | infantile | | Age of Onset: n/a, Age of Patient: 0.8, Age of Death: n/a |
Back to top | Reference: | Wong et al, 2008; | | Description: | Ataxia Neuropathy Spectrum, Seizures, PEO, lactic acidosis, stroke, chorea, ataxia, ptosis, retinitis pigmentosa, liver transplans | | Mutations: | R627Q, R852C | | SNPs: | G11D | | Age group: | juvenile | | Age of Onset: 15, Age of Patient: n/a, Age of Death: n/a |
| Reference: | Wong et al, 2008; | | Description: | Seizures, PEO, Ataxia Neuropathy Spectrum, Stroke, chorea, ataxia, ptosis, retinitis pigmentosa, liver transplant | | Mutations: | R627Q, R852C | | SNPs: | G11D | | Age group: | juvenile | | Age of Onset: 15, Age of Patient: 19, Age of Death: n/a |
| Reference: | Mehta et al, 2011; | | Description: | progressive cerebellar syndrome, slurred speech, balance disturbances, mild incoordination, type II diabetes mellitus, dysarthria, mild limb dysmetria, mildly impaired tandem gait, cerebellar ataxia. She had polyminimyoclonus of her outstretched hands, a positive glabellar tap and brisk deep tendon reflexes with flexor plantar responses. She had Rigidity in the legs worse than in the arms, brisk reflexes, and mild bilateral bradykinesia in association with dystonic posturing of the left hand. Dystonia. | | Mutations: | R852C | | SNPs: | G11D | | Age group: | adult | | Age of Onset: 49, Age of Patient: 58, Age of Death: n/a |
| Reference: | Ashley et al, 2008; | | Description: | reported as Alpers, onset at 1 years, presenting encephalopathy with epilepsy, hepatopathy, and movement disorder (ataxia). 32% mtDNA copy number in liver. | | Mutations: | R852C, W748S | | SNPs: | G11D | | Age group: | infantile | | Age of Onset: 1, Age of Patient: n/a, Age of Death: n/a |
| Reference: | Stewart et al, 2009; | | Description: | Alpers, Seizures, Epilepsia partialis continua, liver failure, stroke-like episode. | | Mutations: | R852C, W748S | | SNPs: | E1143G, G11D | | Age group: | infantile | | Age of Onset: 1.33, Age of Patient: n/a, Age of Death: n/a |
Back to top | Reference: | Naess et al, 2009; | | Description: | Developmental retardation, Hypotonia, ataxia, seizures myoclonus, abnormal eye movement, gastrointestinal problems, hepatic involvement | | Mutations: | R852C, W748S | | SNPs: | G11D | | Age group: | infantile | | Age of Onset: 0.3, Age of Patient: n/a, Age of Death: 1.1 |
| Reference: | Vasta et al, 2012; | | Description: | PEO, alpers disease, ataxia, seizure, hypotonia, developemental delay, | | Mutations: | R852C, W748S | | SNPs: | E1143G, G11D | | Age group: | infantile | | Age of Onset: 0.001, Age of Patient: n/a, Age of Death: n/a |
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| R852C | | | | Number of patients: (with R852C) | 15 | | Found together with: | | | Show Patient Data |
| Patient data are sorted by mutation combination frequency. | Reference: | Ashley et al, 2008; | | Description: | reported as Alpers, onset at 2 years, presenting encephalopathy with epilepsy, hepatopathy. 22% mtDNA copy number in muscle. | | Mutations: | A467T, R852C | | SNPs: | G11D | | Age group: | infantile | | Age of Onset: 2.25, Age of Patient: n/a, Age of Death: n/a |
| Reference: | Stewart et al, 2009; | | Description: | Alpers, seizures, abnormal liver function, mild lactic acidosis, normal histology of COX fibers. | | Mutations: | A467T, R852C | | SNPs: | G11D | | Age group: | infantile | | Age of Onset: 1.25, Age of Patient: n/a, Age of Death: n/a |
| Reference: | Tang et al, 2011; | | Description: | Seizures, myoclonic seizures, intractable seizures, hepatic failure, elevated transaminases, Apnes/Hypoventilation, respiratory deficiency/failure, lactic acidosis, organic aciduria/tiglyglycine, low plasma carnitine, abnormal EEG. 108% mtDNA copy number in blood. | | Mutations: | A467T, R852C | | SNPs: | G11D | | Age group: | infantile | | Age of Onset: n/a, Age of Patient: 0.8, Age of Death: n/a |
| Reference: | Mehta et al, 2011; | | Description: | progressive cerebellar syndrome, slurred speech, balance disturbances, mild incoordination, type II diabetes mellitus, dysarthria, mild limb dysmetria, mildly impaired tandem gait, cerebellar ataxia. She had polyminimyoclonus of her outstretched hands, a positive glabellar tap and brisk deep tendon reflexes with flexor plantar responses. She had Rigidity in the legs worse than in the arms, brisk reflexes, and mild bilateral bradykinesia in association with dystonic posturing of the left hand. Dystonia. | | Mutations: | R852C | | SNPs: | G11D | | Age group: | adult | | Age of Onset: 49, Age of Patient: 58, Age of Death: n/a |
Back to top | Reference: | Hunter et al, 2011; | | Description: | Myoclonic Seizures, visual disturbance, motor paresis, Focal motor seizures, Epilepsia partialis continua, Developmental Delay or Regression, ataxia, Serum Lactate, liver mtDNA depletion, Alpers | | Mutations: | A467T, R852C | | Age group: | infantile | | Age of Onset: 1.33, Age of Patient: n/a, Age of Death: 5.08 |
| Reference: | McCoy et al, 2011; | | Description: | clonic seizures of the right arm and leg, Coma persisted and was accompanied by hypoglycaemia, tachycardia and oliguria, CSF proteinwas elevated, cortical blindness, anarthria and profound hypotonia, Liver dysfunction, prolonged focal seizures, acute encephalopathy, | | Mutations: | A467T, R852C | | Age group: | infantile | | Age of Onset: 1.75, Age of Patient: n/a, Age of Death: 3.5 |
| Reference: | Ashley et al, 2008; | | Description: | reported as Alpers, onset at 1 years, presenting encephalopathy with epilepsy, hepatopathy, and movement disorder (ataxia). 32% mtDNA copy number in liver. | | Mutations: | R852C, W748S | | SNPs: | G11D | | Age group: | infantile | | Age of Onset: 1, Age of Patient: n/a, Age of Death: n/a |
| Reference: | Stewart et al, 2009; | | Description: | Alpers, Seizures, Epilepsia partialis continua, liver failure, stroke-like episode. | | Mutations: | R852C, W748S | | SNPs: | E1143G, G11D | | Age group: | infantile | | Age of Onset: 1.33, Age of Patient: n/a, Age of Death: n/a |
Back to top | Reference: | Naess et al, 2009; | | Description: | Developmental retardation, Hypotonia, ataxia, seizures myoclonus, abnormal eye movement, gastrointestinal problems, hepatic involvement | | Mutations: | R852C, W748S | | SNPs: | G11D | | Age group: | infantile | | Age of Onset: 0.3, Age of Patient: n/a, Age of Death: 1.1 |
| Reference: | Vasta et al, 2012; | | Description: | PEO, alpers disease, ataxia, seizure, hypotonia, developemental delay, | | Mutations: | R852C, W748S | | SNPs: | E1143G, G11D | | Age group: | infantile | | Age of Onset: 0.001, Age of Patient: n/a, Age of Death: n/a |
| Reference: | Sofou et al, 2013; | | Description: | Alpers/ Alpers–Huttenlocher. | | Mutations: | Q497H, R852C, W748S | | SNPs: | E1143G | | Age group: | infantile | | Age of Onset: n/a, Age of Patient: n/a, Age of Death: n/a |
| Reference: | Tang et al, 2011; | | Description: | Dementia/encephalopathy, infantile spasms, cerebral artery occlusion, headache/migraine, stroke, constipation. 74% mtDNA copy number in blood. | | Mutations: | R627Q, R852C | | SNPs: | G11D | | Age group: | juvenile | | Age of Onset: n/a, Age of Patient: 25, Age of Death: n/a |
| Reference: | Wong et al, 2008; | | Description: | Ataxia Neuropathy Spectrum, Seizures, PEO, lactic acidosis, stroke, chorea, ataxia, ptosis, retinitis pigmentosa, liver transplans | | Mutations: | R627Q, R852C | | SNPs: | G11D | | Age group: | juvenile | | Age of Onset: 15, Age of Patient: n/a, Age of Death: n/a |
Back to top | Reference: | Wong et al, 2008; | | Description: | Seizures, PEO, Ataxia Neuropathy Spectrum, Stroke, chorea, ataxia, ptosis, retinitis pigmentosa, liver transplant | | Mutations: | R627Q, R852C | | SNPs: | G11D | | Age group: | juvenile | | Age of Onset: 15, Age of Patient: 19, Age of Death: n/a |
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