PrionDB: Extraction of mutation data from the literature

2005, PrionDB.

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 171 were found are listed after the table.

Point mutations at position N171 in PRIO_HUMAN

Protein	PRIO_HUMAN (P04156) Gene: PRNP (other point mutations)	Swiss-Prot Cross-reference table Family page
Position	N171
General numbering (PrionDB)	-
Domain	Not determined
Family alignments	Mammalian prion proteins Prion proteins (PRP, PRNP)
Other point mutations at the same position	Position 171 in Mammalian prion proteins family Position 171 in Prion proteins (PRP, PRNP) family
Reference #1	Zuegg J, Gready JE Biochemistry 1999 Oct 19;38(42):13862-76.	Medline
Text source	HTML and PDF full texts
Point mutation	N171S (True positive)
Reference #2	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	N171S (True positive)
Reference #3	Berest V, Rutkowski M, Rolka K, LEgowska A, Debska G, Stepkowski D, Szewczyk A Cell Mol Biol Lett 2003;8(2):353-62.	Medline
Text source	abstract
Point mutation	N171S (True positive)
Reference #4	Kaneko K, Zulianello L, Scott M, Cooper CM, Wallace AC, James TL, Cohen FE, Prusiner SB Proc Natl Acad Sci U S A 1997 Sep 16;94(19):10069-74.	Medline
Text source	HTML and PDF full texts
Point mutation	N171S (True positive)

Relevant sentences

Reference #1 (Zuegg J et al.): N171S

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) ]

Reference #2 (Mead S et al.): N171S

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 )

Reference #3 (Berest V et al.): N171S

In this report , we show that PrP [170-175] N171S increases the conductance of planar lipid bilayers

Reference #4 (Kaneko K et al.): N171S

MHM2 PrP(N170S) is equivalent to human polymorphism N171S (25 )

F.Horn (priondbcmbi.ru.nl), 22-Aug-2005