Mutation Query
| | | | Allele 1: | Y955C | Allelic information known | | Refine query |
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| | | 955 |  |  |
| | Residue Y955 | | Cluster assignment: | | | Cluster description: | Polymerase active site and environs | | Subcluster: | 1E (residues 914-966) | | Subcluster description: | This subcluster comprises most of the fingers subdomain of the pol domain, including the O-helix and the Pol B motif (Loh and Loeb, 2005). | | POLG domain: | Polymerase domain |
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Mutation Information
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| Y955C | | | | Number of patients: (with Y955C) | 40 | | Found as the only mutation: | 95% of entries (38 patients) | | Non-allelic with: | Q1236H (3%) G517V (3%) |  | Show Patient Data |
| Patient data are sorted by mutation combination frequency. | Reference: | Lamantea et al, 2002; | | Description: | PEO. | | Mutations: | Y955C | | Age group: | adult | | Age of Onset: n/a, Age of Patient: 31, Age of Death: n/a |
| Reference: | Lamantea et al, 2002; | | Description: | PEO. | | Mutations: | Y955C | | Age group: | adult | | Age of Onset: n/a, Age of Patient: 54, Age of Death: n/a |
| Reference: | Luoma et al, 2004; | | Description: | PEO, Parkinsons, rigidity, bradykinesia, ptosis, muscle weakness, cataracts, ataxia. | | Mutations: | Y955C | | Age group: | adult | | Age of Onset: 35, Age of Patient: 60, Age of Death: n/a |
| Reference: | Luoma et al, 2004; | | Description: | PEO, Parkinsons, rigidity, resting tremor, bradykinesia, ptosis, muscle weakness, cataracts, ataxia. | | Mutations: | Y955C | | Age group: | adult | | Age of Onset: 25, Age of Patient: 58, Age of Death: 60 |
Back to top | Reference: | Luoma et al, 2004; | | Description: | PEO, Primary amenorrhea, Parkinsons, resting tremor, rigidity, bradykinesia, ptosis, muscle weakness, mental retardation, cataracts, ataxia, head tremor | | Mutations: | Y955C | | Age group: | adult | | Age of Onset: 23, Age of Patient: 64, Age of Death: n/a |
| Reference: | Luoma et al, 2004; | | Description: | PEO, premature menopause, Parkinsons, resting tremor, rigidity, bradykinesia, ptosis, cataracts, ataxia. | | Mutations: | Y955C | | Age group: | adult | | Age of Onset: 21, Age of Patient: 62, Age of Death: n/a |
| Reference: | Luoma et al, 2004; | | Description: | PEO, premature menupause, ptosis, muscle weakness, cataracts | | Mutations: | Y955C | | Age group: | adult | | Age of Onset: 30, Age of Patient: 52, Age of Death: n/a |
| Reference: | Luoma et al, 2004; | | Description: | PEO, ptosis, cataracts, rheumatoid arthritis, cardiac failure | | Mutations: | Y955C | | Age group: | adult | | Age of Onset: 40, Age of Patient: n/a, Age of Death: 67 |
| Reference: | Luoma et al, 2004; | | Description: | PEO, ptosis, muscle weakness | | Mutations: | Y955C | | Age group: | adult | | Age of Onset: 23, Age of Patient: 33, Age of Death: n/a |
Back to top | Reference: | Luoma et al, 2004; | | Description: | Parkinsons, resting tremor, ptosis, PEO, Muscle weakness, cataracts, Neuropathy | | Mutations: | Y955C | | Age group: | adult | | Age of Onset: 30, Age of Patient: 74, Age of Death: n/a |
| Reference: | Luoma et al, 2004; | | Description: | Parkinsons, resting tremor, rigidity, bradykinesia, ptosis, PEO, Muscle weakness, Neuropathy | | Mutations: | Y955C | | Age group: | adult | | Age of Onset: 49, Age of Patient: 50, Age of Death: n/a |
| Reference: | Luoma et al, 2004; | | Description: | Parkinsons, resting tremor, rigidity, bradykinesia, ptosis, PEO, Muscle weakness, cataracts, Neuropathy. | | Mutations: | Y955C | | Age group: | adult | | Age of Onset: 49, Age of Patient: 73, Age of Death: n/a |
| Reference: | Luoma et al, 2004; | | Description: | Parkinsons, resting tremor, rigidity, bradykinesia, ptosis, PEO, muscle weakness, Cataracts, presbyacusis, ataxia, premature menopause, neuropathy. | | Mutations: | Y955C | | Age group: | adult | | Age of Onset: 22, Age of Patient: 60, Age of Death: 61 |
| Reference: | Luoma et al, 2004; | | Description: | Parkinsons, rigidity, bradykinesia, ptosis, PEO, muscle weakness, hypoacusia, premature menopause. | | Mutations: | Y955C | | Age group: | adult | | Age of Onset: 30, Age of Patient: 67, Age of Death: n/a |
Back to top | Reference: | Luoma et al, 2004; | | Description: | Ptosis, PEO, Exercise intolerance, pigmentary retinopathy, neuropathy | | Mutations: | Y955C | | Age group: | adult | | Age of Onset: 28, Age of Patient: 30, Age of Death: n/a |
| Reference: | Luoma et al, 2004; | | Description: | Resting tremor, rigidity, bradykinesia, ptosis, PEO, muscle weakness, periodic depression, dementia, cataracts, Parkinsons. | | Mutations: | Y955C | | Age group: | childhood | | Age of Onset: 10, Age of Patient: 58, Age of Death: 65 |
| Reference: | Luoma et al, 2004; | | Description: | ptosis, weak achilles tendon reflexes | | Mutations: | Y955C | | Age group: | adult | | Age of Onset: 33, Age of Patient: 38, Age of Death: n/a |
| Reference: | Tang et al, 2011; | | Description: | CPEO, myopathy. | | Mutations: | Y955C | | Age group: | adult | | Age of Onset: n/a, Age of Patient: 45, Age of Death: n/a |
| Reference: | Van Goethem et al, 2003a; | | Description: | CPEO, myopathy. Muscle biopsy showed RRF, multiple mtDNA deletions. Age of onset for three alcoholics ranged from 25-39, and age of death ranged from 54-65. | | Mutations: | Y955C | | Age group: | adult | | Age of Onset: 25, Age of Patient: n/a, Age of Death: 54 |
Back to top | Reference: | Wong et al, 2008; | | Description: | Onset 0.1 years with dementia, liver dysfunction, lactic acidosis, hearing loss, failure to thrive, generalized ETC complex deficiency. | | Mutations: | Y955C | | Age group: | infantile | | Age of Onset: 0.1, Age of Patient: n/a, Age of Death: n/a |
| Reference: | Kollberg et al, 2005; | | Description: | adPEO, multiple mtDNA deletions in muscle tissue. | | Mutations: | Y955C | | Age group: | adult | | Age of Onset: 55, Age of Patient: 55, Age of Death: n/a |
| Reference: | Kollberg et al, 2005; | | Description: | adPEO, multiple mtDNA deletions in muscle tissue. | | Mutations: | Y955C | | Age group: | adult | | Age of Onset: n/a, Age of Patient: 53, Age of Death: n/a |
| Reference: | Kollberg et al, 2005; | | Description: | adPEO, multiple mtDNA deletions in muscle tissue. | | Mutations: | Y955C | | Age group: | adult | | Age of Onset: n/a, Age of Patient: 60, Age of Death: n/a |
| Reference: | Kollberg et al, 2005; | | Description: | adPEO, multiple mtDNA deletions in muscle tissue. | | Mutations: | Y955C | | Age group: | adult | | Age of Onset: n/a, Age of Patient: 60, Age of Death: n/a |
Back to top | Reference: | Pagnamenta et al, 2006; | | Description: | Presented with ptosis and PEO, in early 20’s, premature ovarian failure at 32 years, proximal muscle weakness, exertional dyspnoea and sensory ataxia, dysphagia. | | Mutations: | Y955C | | Age group: | adult | | Age of Onset: 22, Age of Patient: n/a, Age of Death: n/a |
| Reference: | Pagnamenta et al, 2006; | | Description: | Presented with ptosis and PEO, in early 20’s, premature ovarian failure at 35 years, proximal muscle weakness, exertional dyspnoea and sensory ataxia, dysphagia. At the age of 57, patient III-2 was noted to have a progressive, parkinsonian-like resting tremor and reduced rapid alternating movements affecting her left arm and leg, and mild bradykinesia. ragged-red fibres | | Mutations: | Y955C | | Age group: | adult | | Age of Onset: 22, Age of Patient: 57, Age of Death: n/a |
| Reference: | Mukai et al, 2013; | | Description: | gait instability, mild parkinsonian features, including cogwheel rigidity and bradykinesia. ragged-red fibers, decreased cytochrome c oxidase activity. Multiple mtDNA deletions were detected. PEO. | | Mutations: | Y955C | | Age group: | adult | | Age of Onset: 65, Age of Patient: 69, Age of Death: n/a |
| Reference: | Mukai et al, 2013; | | Description: | rigidity with cogwheel phenomenon, bradykinesia, resting tremor and postural instability. Ragged-red fibers as well as fibers with increased subsarcolemmal succinate dehydrogenase activity and decreased cytochrome c oxidase activity. Multiple mtDNA deletions were detected. Parkinsons. PEO. | | Mutations: | Y955C | | Age group: | adult | | Age of Onset: 60, Age of Patient: 73, Age of Death: n/a |
| Reference: | Van Goethem et al, 2001; | | Description: | Neuropathic symptoms, psychiatric symptoms, distal sensoral neuropathy, areflexia, pes cavus. | | Mutations: | Y955C | | Age group: | adult | | Age of Onset: 28, Age of Patient: 29, Age of Death: n/a |
Back to top | Reference: | Van Goethem et al, 2001; | | Description: | Ocular symptoms, ptosis, Ophthalmoplegia, Muscle weakness, areflexia. | | Mutations: | Y955C | | Age group: | adult | | Age of Onset: 30, Age of Patient: 52, Age of Death: n/a |
| Reference: | Van Goethem et al, 2001; | | Description: | Ocular symptoms, ptosis, Ophthalmoplegia, Muscle weakness, areflexia. | | Mutations: | Y955C | | Age group: | adult | | Age of Onset: 35, Age of Patient: 53, Age of Death: n/a |
| Reference: | Van Goethem et al, 2001; | | Description: | Ocular symptoms, ptosis, Ophthalmoplegia, Muscle weakness, areflexia. | | Mutations: | Y955C | | Age group: | adult | | Age of Onset: 39, Age of Patient: 39, Age of Death: n/a |
| Reference: | Van Goethem et al, 2001; | | Description: | Ocular symptoms, ptosis, areflexia. | | Mutations: | Y955C | | Age group: | adult | | Age of Onset: 33, Age of Patient: 33, Age of Death: n/a |
| Reference: | Van Goethem et al, 2001; | | Description: | Ocular symptoms, ptosis, dysphonia, distal sensoral neuropathy, areflexia, pes cavus. | | Mutations: | Y955C | | Age group: | adult | | Age of Onset: 32, Age of Patient: 32, Age of Death: n/a |
Back to top | Reference: | Van Goethem et al, 2001; | | Description: | Psychiatric symptoms, ptosis, Ophthalmoplegia, Dysphonia, Dysphagia, Muscle weakness, Elevated blood CK, Myogenic EMG, areflexia, distal sensory neuropathy, hearing loss. | | Mutations: | Y955C | | Age group: | adult | | Age of Onset: 30, Age of Patient: 48, Age of Death: n/a |
| Reference: | Van Goethem et al, 2001; | | Description: | Ptosis, Ophthalmoplegia, Dysphonia, Dysphagia, Muscle weakness, Elevated blood CK, Myogenic EMG, ocular symptoms, areflexia. | | Mutations: | Y955C | | Age group: | adult | | Age of Onset: 35, Age of Patient: 55, Age of Death: n/a |
| Reference: | Van Goethem et al, 2001; | | Description: | Ptosis, Ophthalmoplegia, Dysphonia, Dysphagia, Muscle weakness, Loss of weight, Elevated blood CK, Myogenic EMG, Distal sensory neuropathy, areflexia, Psychatric symptoms. | | Mutations: | Y955C | | Age group: | adult | | Age of Onset: 25, Age of Patient: 60, Age of Death: n/a |
| Reference: | Martikainen et al, 2016; | | Description: | Parkinsonism, restless legs syndrome. Good response to levodopa and ropinirole. PEO, cerebellar ataxia, neuropathy, myopathy, sensorineural hearing loss. | | Mutations: | Y955C | | Age group: | adult | | Age of Onset: 40, Age of Patient: 63, Age of Death: n/a |
| Reference: | Pagnamenta et al, 2006; | | Description: | Presented with ptosis and PEO, in early 20’s, premature ovarian failure at 28 years. proximal muscle weakness, exertional dyspnoea and sensory ataxia, Peripheral neuropathy | | Mutations: | Y955C | | SNPs: | Q1236H | | Age group: | adult | | Age of Onset: 22, Age of Patient: 33, Age of Death: n/a |
Back to top | Reference: | Tang et al, 2011; | | Description: | Peripheral neuropathy, myopathy, ptosis, CPEO, COX deficiency, ragged red fibres | | Mutations: | G517V, Y955C | | Age group: | adult | | Age of Onset: n/a, Age of Patient: 47, Age of Death: n/a |
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Mutations in only a single POLG allele rarely cause POLG-related syndromes. The few known dominant mutations have consistently exhibited late/ adult disease onset in patients.For further information, please see our analysis of dominant POLG mutations, and the full list of dominant mutations. Mutation Y955C is found in the database as a single cluster-mapping mutation in patients, which suggests it can be dominant, and may cause a pathogenic phenotype by itself. Elevated/ significant risk of POLG syndrome exists. See full list of putatively-dominant POLG mutations |
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