Mutation Query
| | | | Allele 1: | A143V | Allelic information known | | Refine query |
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| | | 143 |  |  |
| | Residue A143 | | Cluster assignment: | | | Cluster description: | Polymerase active site and environs | | Subcluster: | 1B (residues 136-143) | | Subcluster description: | Outer layer of the holoenzyme, contacts subclusters 1C, 1G, and 1F | | POLG domain: | N-Terminal domain |
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Mutation Information
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| A143V | | | | Number of patients: (with A143V) | 8 | | Found as the only mutation: | 13% of entries (1 patient) | | Found together with: | |  | Show Patient Data |
| Patient data are sorted by mutation combination frequency. | Reference: | Tang et al, 2011; | | Description: | Ataxia, peripheral neuropathy, hearing loss, abnormal MRI, COX deficiency, developmental delay, seizure, delayed gastric emptying, CPK abnormalities, sister died at 2.5 years. 111% mtDNA copy number in blood. Patient II-49. | | Mutations: | A143V, G848S | | Age group: | adult | | Age of Onset: n/a, Age of Patient: 38, Age of Death: n/a |
| Reference: | Tang et al, 2011; | | Description: | Evidence of maternal inheritance, developmental delay, hypotonia, dementia/encephalopathy, seizures, myoclonic seizures, hepatic failure, elevated transaminases, high CSF lactate, abnormal EEG, leukodystrophy, MRS/lactate peak, abnormal MRI. 71% mtDNA copy number in blood. | | Mutations: | A143V, G848S | | Age group: | childhood | | Age of Onset: n/a, Age of Patient: 4, Age of Death: n/a |
| Reference: | Tang et al, 2011; | | Description: | Leigh disease, developmental delay, FTT, abnormal EEG/MRI, hypotonia, seizures, vomiting, hemiplegia, behavior change. 136% mtDNA copy number in muscle and 57% mtDNA copy number in blood. | | Mutations: | A143V, G848S | | Age group: | childhood | | Age of Onset: n/a, Age of Patient: 4, Age of Death: n/a |
| Reference: | Tang et al, 2011; | | Description: | Seizures, intractable seizure, abnormal EEG, abnormal MRI. 43% mtDNA copy number in blood. | | Mutations: | A143V, G848S | | Age group: | childhood | | Age of Onset: n/a, Age of Patient: 8, Age of Death: n/a |
Back to top | Reference: | Tang et al, 2011; | | Description: | Dementia/encephalopathy, headaches/migraines, ataxia, seizures, peripheral neuropathy, exercise intolerance, muscle weakness, easy fatigability, CPEO, abnormal EMG/NCV, hearing loss, cerebellar atrophy, abnormal MRI. 82% mtDNA copy number in blood. | | Mutations: | A143V, A467T | | Age group: | adult | | Age of Onset: n/a, Age of Patient: 49, Age of Death: n/a |
| Reference: | Tang et al, 2011; | | Description: | Cerebral cavernous malformation, teen onset CPEO. 110% mtDNA copy number in blood. | | Mutations: | A143V, L304R | | Age group: | juvenile | | Age of Onset: n/a, Age of Patient: 22, Age of Death: n/a |
| Reference: | Amiot et al, 2009; | | Description: | Peripheral neuropathy, PEO, ataxia, hearing loss, dysarthria-dysphonia, urinary tract involvement | | Mutations: | A143V, W748S | | SNPs: | E1143G | | Age group: | adult | | Age of Onset: 40, Age of Patient: 49, Age of Death: n/a |
| Reference: | Sarzi et al, 2007; | | Description: | Onset with seizures at 6 months, alpers syndrome. Muscle mtDNA depletion. | | Mutations: | A143V | | Age group: | infantile | | Age of Onset: 0.5, Age of Patient: n/a, Age of Death: 2 |
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