Mutation Query
| | | | Allele 1: | P163S | | Allele 2: | T851A | Allelic information known | | Refine query |
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| | | Residue P163 | | Cluster assignment: | | | Cluster description: | Single Nucleotide Polymorphism | | POLG domain: | N-Terminal domain |
| Residue T851 | | 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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| P163S | | | | Number of patients: (with P163S) | 1 | | Non-allelic with: | T851A (100%) |  | Show Patient Data |
| Patient data are sorted by mutation combination frequency. | Reference: | Woodbridge et al, 2012; | | Description: | CPEO, Seizures, neuropathy, ataxia, dysphagia/ dysarthria, bowel pseudo-obstruction, | | Mutations: | T851A | | SNPs: | P163S | | Age group: | adult | | Age of Onset: 21, Age of Patient: n/a, Age of Death: n/a |
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| T851A | | | | Number of patients: (with T851A) | 4 | | Found together with: | | | Show Patient Data |
| Patient data are sorted by mutation combination frequency. | Reference: | Wiltshire et al, 2008; | | Description: | Juvenile Alpers, migraines at 12 years, ataxia, peripheral neuropathy, seizures, VPA-induced hepatopathy. | | Mutations: | R1047W, T851A | | Age group: | childhood | | Age of Onset: 12, Age of Patient: n/a, Age of Death: 17 |
| Reference: | Ashley et al, 2008; | | Description: | Onset at 6 months of age, epilepsy, hepatopathy. 4% mtDNA copy number in liver, 32% mtDNA copy number in muscle. | | Mutations: | H277L, T851A | | Age group: | infantile | | Age of Onset: 0.5, Age of Patient: n/a, Age of Death: n/a |
| Reference: | Woodbridge et al, 2012; | | Description: | CPEO, Seizures, neuropathy, ataxia, dysphagia/ dysarthria, bowel pseudo-obstruction, | | Mutations: | T851A | | SNPs: | P163S | | Age group: | adult | | Age of Onset: 21, Age of Patient: n/a, Age of Death: n/a |
| Reference: | Woodbridge et al, 2012; | | Description: | CPEO, neuropathy, ataxia, hepatopathy, dysphagia/ dysarthria, gastrointestinal symptoms, severe diarrhoea alternating with constipation, | | Mutations: | N468D, T851A | | Age group: | childhood | | Age of Onset: n/a, Age of Patient: 49, Age of Death: n/a |
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The following information is based on PON-P2 mutation pathogenicity prediction software results. Cluster 1 mutation with a non-cluster-mapping mutation (SNP) P163S Mutation pathogenicity prediction for mutation P163S is unreliable. Mutation P163S is outside of assigned pathogenic clusters, and therefore risk that it contributes to a POLG-related syndrome is low. See further details for residue 163. All mutations mapping into the pathogenic clusters are in high risk of being pathogenic. As a rule, a patient must have a pathogenic mutation in both of his/ her POLG genes to develop a POLG-related syndrome. |
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