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 219 were found are listed after the table.
| Protein | PRIO_HUMAN (P04156) Gene: PRNP (other point mutations) | Swiss-Prot
Cross-reference table
Family page |
| Position | E219 | |
| 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 219 in Mammalian prion proteins family
Position 219 in Prion proteins (PRP, PRNP) family
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| Reference #1 | Zuegg J, Gready JE
Biochemistry 1999 Oct 19;38(42):13862-76. | Medline |
| Text source | HTML and PDF full texts |
| Point mutation | E219K (True positive) | |
| Reference #2 | Perrier V, Kaneko K, Safar J, Vergara J, Tremblay P, DeArmond SJ, Cohen FE, Prusiner SB, Wallace AC
Proc Natl Acad Sci U S A 2002 Oct 1;99(20):13079-84. | Medline |
| Text source | HTML full text |
| Point mutation | E219K (True positive) | |
| Reference #3 | Mead S, Stumpf MP, Whitfield J, Beck JA, Poulter M, Campbell T, Uphill JB, Goldstein D, Alpers M, Fisher EM, Collinge J
Science 2003 Apr 25;300(5619):640-3. | Medline |
| Text source | HTML full text |
| Point mutation | E219K (True positive) | |
| Cited point mutation | Glu219Lys,Glu219 | |
| Reference #4 | Soldevila M, Andres AM, Blancher A, Calafell F, Ordonez M, Pumarola M, Oliva B, Aramburu J, Bertranpetit J
Neurosci Lett 2004 Jan 30;355(3):157-60. | Medline |
| Text source | HTML full text |
| Point mutation | E219K (True positive) | |
| Reference #5 | Crozet C, Lin YL, Mettling C, Mourton-Gilles C, Corbeau P, Lehmann S, Perrier V
J Cell Sci 2004 Nov 1;117(Pt 23):5591-7. Epub 2004 Oct 19. | Medline |
| Text source | HTML full text |
| Point mutation | E219K (True positive) | |
| Reference #6 | Ishida C, Okino S, Kitamoto T, Yamada M
J Neurol Neurosurg Psychiatry 2005 Mar;76(3):325-9. | Medline |
| Text source | HTML full text |
| Point mutation | E219K (Not yet checked) | |
| Cited point mutation | Glu219Lys | |
| Reference #7 | Tanaka Y, Minematsu K, Moriyasu H, Yamaguchi T, Yutani C, Kitamoto T, Furukawa H
J Neurol Neurosurg Psychiatry 1997 May;62(5):454-7. | Medline |
| Text source | abstract |
| Point mutation | E219K (True positive) | |
Reference #1 (Zuegg J et al.): E219K
- The amino acid residues in black boxes are mutation sites known to be associated with inherited forms of PrP diseases in humans [CJD , D178N:129V (3) , V180I (3) , T183A (3) , E200K (3) , R208H (3) , V210I (3) , and M232R (3) ; GSS , P102L (3) , P105L (3) , A117V (3) , Y145Stop (3) , H187R (14) , F198S (3) , D202N (13) , Q212P (13) , and Q217R (3) ; FFI , D178N:129M (3) ; schizophrenia , N171S (12) ] , while in light gray boxes residues involved in some polymorphisms influencing these diseases are shown [M129V (3) , E219K (11) ]
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Reference #2 (Perrier V et al.): E219K
- Naturally occurring polymorphic variants of PrP , Q171R and E219K , known to render sheep and humans resistant to scrapie and Creutzfeldt-Jakob disease , respectively (16-18 ) , were found to act as dominant negatives in scrapie-infected neuroblastoma cells (19 , 20 )
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Reference #3 (Mead S et al.): E219K
- Heterozygosity at a different PRNP polymorphism , Glu219 replaced by Lys (E219K) (10 ) , is also associated with resistance to sporadic CJD in Japan (11 )
- The E219K polymorphism was found in Japan and other populations in the Indian subcontinent and East Asia
- In total , we found only six intermediate frequency polymorphisms in our screen: five coding changes , M129V , E219K , N171S , G142S , 1-octapeptide repeat deletion , but only one intermediate frequency silent change at Ala117 , A117A (Table 1 ) (9 )
- ------------------------------------------------------------------------ Population n Frequency of human PRNP polymorphisms (%) ------------------------------------------------------------------------ M129V E219K N171S G142S 1-OPRD A117A ------------------------------------------------------------------------ African Yemeni Hadramout 15 27 0 0 6 0 3 Yemeni Sena 22 32 0 0 0 2 5 Cameroon 39 35 0 8 0 - 9 Jamaican 100 32 0 5 3 30 0 South Asian Sri Lankans 35 23 13 0 0 0 1 Non-UP Indians 88 21 5 0 0 2 2 UP Indians 64 28 6 0 0 0 3 East Asian Japanese 36 1 7 0 0 - 0 Taiwan (5 populations) 70 3 3 0 0 0 0 Pacific PNG (Madang) 83 30 1 0 0 0 0 PNG (Fore) 48 55 0 0 0 0 0 Fiji (Taveuni) 10 5 - - - 5 0 Fiji (others) 18 17 - - - 3 0 Vanuatu (Port Olry) 33 5 13 0 0 8 0 Vanuatu (Maewo) 32 17 8 0 0 13 0 Tonga 22 14 7 0 0 0 0 European Turkish 61 48 0 0 0 3 4 CEPH parents 122 38 0 0 0 1 3 Georgian Jews 74 26 0 0 0 0 3 South American Columbian ------------------------------------------------------------------------ 148 ------------------------------------------------------------------------ 41 ------------------------------------------------------------------------ ------------------------------------------------------------------------ ------------------------------------------------------------------------ ------------------------------------------------------------------------ ------------------------------------------------------------------------ ------------------------------------------------------------------------ The McDonald and Kreitman (MK) test compares the number of silent and coding nucleotide changes between two species with polymorphisms within a species in a 2 by 2 contingency table (15 )
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Reference #4 (Soldevila M et al.): E219K
- An increasing number of point , missense and insertion / deletion mutations in PRNP have been identified as causing disease (CJD , GSSD , FFI) or altered susceptibility (e.g. M129V and E219K) , or may be without apparent effect (e.g. synonymous variant A117A)
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Reference #5 (Crozet C et al.): E219K
- By taking advantage of the `prion-resistant' polymorphisms Q171R and E219K that naturally exist in sheep and humans , respectively , we have evaluated a therapeutic approach of lentiviral gene transfer
- Kaneko et al. introduced the Q171R sheep mutation and E219K human mutation in the mouse Prnp gene (MoPrPQ167R and MoPrPQ218K respectively) (Kaneko et al. , 1997(image) )
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Reference #7 (Tanaka Y et al.): E219K
- OBJECTIVE: A new variant of Gerstmann-Straussler-Scheinker disease (GSS) was reported , which had a substitution of glutamate to lysine at codon 219 (E219K) in addition to a P102L mutation on the same allele of the PrP gene
- The absence of Congo red staining prion protein plaques is probably attributable to E219K polymorphism on the same allele of the PrP gene.
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Reference #3 (Mead S et al.): Glu219
- Heterozygosity at a different PRNP polymorphism , Glu219 replaced by Lys (E219K) (10 ) , is also associated with resistance to sporadic CJD in Japan (11 )
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Reference #6 (Ishida C et al.): Glu219Lys
- Takase K , Furuya H , Murai H , et al. A case of Gerstmann-Sträussler-Scheinker syndrome (GSS) with late onset-A haplotype analysis of Glu219Lys polymorphism in PrP gene-
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2005, PrionDB.
cmbi.ru.nl), 22-Aug-2005