This data was extracted from Medline abstracts and full texts (when available) in an automated manner.
The table below describes different point mutations at a given position and provides links to other documents. The sentence(s) where the point mutations in PRIO_HUMAN at position 188 were found are listed after the table.
| Protein | PRIO_HUMAN (P04156) Gene: PRNP (other point mutations) | Swiss-Prot
Cross-reference table
Family page |
| Position | T188 | |
| General numbering (PrionDB) | - |
| Domain | Not determined |
| Family alignments |
Mammalian prion proteins
Prion proteins (PRP, PRNP)
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| Other point mutations at the same position |
Position 188 in Mammalian prion proteins family
Position 188 in Prion proteins (PRP, PRNP) family
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| Reference #1 | Windl O, Giese A, Schulz-Schaeffer W, Zerr I, Skworc K, Arendt S, Oberdieck C, Bodemer M, Poser S, Kretzschmar HA
Hum Genet 1999 Sep;105(3):244-52. | Medline |
| Text source | abstract |
| Point mutation | T188R (True positive) | |
| Reference #2 | Lorenz H, Windl O, Kretzschmar HA
J Biol Chem 2002 Mar 8;277(10):8508-16. | Medline |
| Text source | HTML and PDF full texts |
| Point mutation | T188K (True positive) | |
| Point mutation | T188R (True positive) | |
| Reference #3 | Mastrangelo P, Serpell L, Dafforn T, Lesk A, Fraser P, Westaway D
FEBS Lett 2002 Dec 4;532(1-2):21-6. | Medline |
| Text source | PDF full text |
| Point mutation | T188K (True positive) | |
| Point mutation | T188R (True positive) | |
| Reference #4 | Gambetti P, Kong Q, Zou W, Parchi P, Chen SG
Br Med Bull 2003;66:213-39. | Medline |
| Text source | PDF full text |
| Point mutation | T188K (True positive) | |
| Point mutation | T188R (True positive) | |
Reference #2 (Lorenz H et al.): T188K
- Two Creutzfeldt-Jakob disease-associated PrP mutants , PrP T188K and PrP T188R , revealed a secretory pathway to the cell membrane and PrP Sc-like properties , i.e. enhanced proteinase K resistance and detergent insolubility similar to other mutant PrPs associated with familial prion diseases
- Among these PrP mutants , there were three , GFP-PrP Q159 Stop , GFP-PrP T187K , and GFP-PrP T187R (corresponding to human PrP Q160 Stop , T188K , T188R) , that have so far never been cellularly examined and which were assayed in this study most intensively
- Biochemical as well as cellular data have been described for four of the seven disease-related PrP mutants , i.e. the three full-length PrP mutants PrP P102L , PrP D178N , PrP E200K (7 , 19 ) and the truncated molecule PrP Y145 Stop (20 ) but not for PrP Q160 Stop , PrP T188K , and PrP T188R (human PrPs)
- Two newly described human pathogenic PrP mutants , PrP T188K and PrP T188R , are associated with familial forms of Creutzfeldt-Jakob disease (28 , 33 ) , albeit histopathological characterizations are missing up to now
- GFP-PrP chimera with mouse PrPa Human PrP Phenotype P101L P102L GSS W144Stopb Y145Stop GSS Q159Stop Q160Stop EODc D177N D178N FFI T187K T188K CJD T187R T188R CJDd E199K E200K CJD a Mouse PrP contains methionine at position 128 , which corresponds to codon 129 in human PrP , a polymorphic site encoding either methionine or valine
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Reference #3 (Mastrangelo P et al.): T188K
- These include T188R , T188K , T188A , V203I , R208H and M232R (see also main text)
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Reference #4 (Gambetti P et al.): T188K
- Similarly , PrP Prions for physicians British Medical Bulletin 2003 ; 66 Table 2 Genotype and phenotype of familial CJD and FFI (reprinted with permission from Kong et al52.) Genotype Onset (years) Duration Clinical and pathological features Familial CJD P105T 3042 NA * NA ** NA R148H129M 63 18 months * Like sCJDMV2 ** Like sCJDMV2 D178N129V 2656 951 months * Dementia , ataxia , myoclonus , extrapyramidal and pyramidal signs ** Spongiosis , neuronal loss and astrogliosis in the cerebral cortex (most severe) , striatum , and thala mus (least severe) , while the cerebellum is spared V180I129M 6685 12 years * Similar to typical sCJD but with a slower progression ** Like typical sCJD T183A129M 45 4 years * Personality changes followed by dementia and Parkinsonism ** Atrophy with spongiform degeneration in the cerebral cortex and , to a lesser extent , in the basal ganglia T188A129M 82 4 months * Like sCJDMM1 ** Im munohistochemistry for PrP negative , no im munoblot T188K 59 * Dysphasia , rapidly progressive dementia , and negative family history ** NA T188R * NA ** NA E196K129M 6377 ~1 year * Rapidly progressive dementia , ataxia , no PSW on EEG ** NA E200K129M 3566 241 months * Similar to typical sCJD ; atypical signs such as supranuclear palsy and peripheral neuropathy in some cases ** Like typical sCJD V203I129M 69 ~1 month * Sudden confusion hallucinations , abnormal motor functions , myoclonus , PSW on EEG , negative family history ** NA H208R129M 60 7 months * Like typical sCJD ** Like typical sCJD V210I129M 4970 35 months * Like typical sCJD ** Like typical sCJD E211Q129M 4281 332 months * Like typical sCJD , PSW on EEG ** NA M232R129M 5570 424 months * Like typical sCJD ** Like typical sCJD FFI D178N129M 2071 633 months * Reduction of total sleep time , enacted dreams , sympathetic hyperactivity , myoclonus , ataxia ; late dementia , pyramidal and extrapyramidal signs in the cases with a relatively long duration (> 1 year) ** Preferential thalamic and olivary atrophy ; spongiform changes in the cerebral cortex in the subjects with a duration of symptoms longer than 1 year *Clinical and **pathological features
- Q160Stop129M103 , E196K129M101 , V203I129M101 , T188K103 , and probably P238S104 , T188R103 , 104 , and P105T (http: / / www.mad-cow.org / prion_point_ mutations.html) display some signs of neurodegeneration
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Reference #1 (Windl O et al.): T188R
- Two novel missense mutations (T188R and P238S) and several silent polymorphisms were found , demonstrating the quality of our screening procedure based on a modified version of the single-stranded conformational polymorphism technique
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Reference #2 (Lorenz H et al.): T188R
- Two Creutzfeldt-Jakob disease-associated PrP mutants , PrP T188K and PrP T188R , revealed a secretory pathway to the cell membrane and PrP Sc-like properties , i.e. enhanced proteinase K resistance and detergent insolubility similar to other mutant PrPs associated with familial prion diseases
- Among these PrP mutants , there were three , GFP-PrP Q159 Stop , GFP-PrP T187K , and GFP-PrP T187R (corresponding to human PrP Q160 Stop , T188K , T188R) , that have so far never been cellularly examined and which were assayed in this study most intensively
- Biochemical as well as cellular data have been described for four of the seven disease-related PrP mutants , i.e. the three full-length PrP mutants PrP P102L , PrP D178N , PrP E200K (7 , 19 ) and the truncated molecule PrP Y145 Stop (20 ) but not for PrP Q160 Stop , PrP T188K , and PrP T188R (human PrPs)
- Two newly described human pathogenic PrP mutants , PrP T188K and PrP T188R , are associated with familial forms of Creutzfeldt-Jakob disease (28 , 33 ) , albeit histopathological characterizations are missing up to now
- GFP-PrP chimera with mouse PrPa Human PrP Phenotype P101L P102L GSS W144Stopb Y145Stop GSS Q159Stop Q160Stop EODc D177N D178N FFI T187K T188K CJD T187R T188R CJDd E199K E200K CJD a Mouse PrP contains methionine at position 128 , which corresponds to codon 129 in human PrP , a polymorphic site encoding either methionine or valine
- d The T188R / 129V haplotype is linked to CJD
- No disease-linked phenotype has been described for T188R / 129M
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Reference #3 (Mastrangelo P et al.): T188R
- These include T188R , T188K , T188A , V203I , R208H and M232R (see also main text)
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Reference #4 (Gambetti P et al.): T188R
- Similarly , PrP Prions for physicians British Medical Bulletin 2003 ; 66 Table 2 Genotype and phenotype of familial CJD and FFI (reprinted with permission from Kong et al52.) Genotype Onset (years) Duration Clinical and pathological features Familial CJD P105T 3042 NA * NA ** NA R148H129M 63 18 months * Like sCJDMV2 ** Like sCJDMV2 D178N129V 2656 951 months * Dementia , ataxia , myoclonus , extrapyramidal and pyramidal signs ** Spongiosis , neuronal loss and astrogliosis in the cerebral cortex (most severe) , striatum , and thala mus (least severe) , while the cerebellum is spared V180I129M 6685 12 years * Similar to typical sCJD but with a slower progression ** Like typical sCJD T183A129M 45 4 years * Personality changes followed by dementia and Parkinsonism ** Atrophy with spongiform degeneration in the cerebral cortex and , to a lesser extent , in the basal ganglia T188A129M 82 4 months * Like sCJDMM1 ** Im munohistochemistry for PrP negative , no im munoblot T188K 59 * Dysphasia , rapidly progressive dementia , and negative family history ** NA T188R * NA ** NA E196K129M 6377 ~1 year * Rapidly progressive dementia , ataxia , no PSW on EEG ** NA E200K129M 3566 241 months * Similar to typical sCJD ; atypical signs such as supranuclear palsy and peripheral neuropathy in some cases ** Like typical sCJD V203I129M 69 ~1 month * Sudden confusion hallucinations , abnormal motor functions , myoclonus , PSW on EEG , negative family history ** NA H208R129M 60 7 months * Like typical sCJD ** Like typical sCJD V210I129M 4970 35 months * Like typical sCJD ** Like typical sCJD E211Q129M 4281 332 months * Like typical sCJD , PSW on EEG ** NA M232R129M 5570 424 months * Like typical sCJD ** Like typical sCJD FFI D178N129M 2071 633 months * Reduction of total sleep time , enacted dreams , sympathetic hyperactivity , myoclonus , ataxia ; late dementia , pyramidal and extrapyramidal signs in the cases with a relatively long duration (> 1 year) ** Preferential thalamic and olivary atrophy ; spongiform changes in the cerebral cortex in the subjects with a duration of symptoms longer than 1 year *Clinical and **pathological features
- Q160Stop129M103 , E196K129M101 , V203I129M101 , T188K103 , and probably P238S104 , T188R103 , 104 , and P105T (http: / / www.mad-cow.org / prion_point_ mutations.html) display some signs of neurodegeneration
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2005, PrionDB.
cmbi.ru.nl), 22-Aug-2005