NDDVD - Neurodegenerative Diseases Variation Database
PRNP (prion protein)
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Curator:
Y Yang
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All individuals with variants in gene PRNP
Legend
Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.
Reference
: Reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, including link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346". References in the "Country:City" format indicate that the variant was submitted directly to this database by the laboratory indicated.
Ethnic origin
: The ethnic origin of the individual; e.g. African, Caucasian, gypsy, jew (Ashkenazi).
Remarks
: Remarks about the individual.
Variants in genes
: The individual has variants for this gene.
Panel size
: Number of individuals this entry represents; e.g. 1 for an individual, 5 for a family with 5 affected members.
How to query this table
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Operator
Column type
Example
Matches
Text
Arg
all entries containing 'Arg'
space
Text
Arg Ser
all entries containing 'Arg' and 'Ser'
|
Text
Arg|Ser
all entries containing 'Arg' or 'Ser'
!
Text
!fs
all entries not containing 'fs'
^
Text
^p.(Arg
all entries beginning with 'p.(Arg'
$
Text
Ser)$
all entries ending with 'Ser)'
=""
Text
=""
all entries with this field empty
=""
Text
="p.0"
all entries exactly matching 'p.0'
!=""
Text
!=""
all entries with this field not empty
!=""
Text
!="p.0"
all entries not exactly matching 'p.0?'
combination
Text
*|Ter !fs
all entries containing '*' or 'Ter' but not containing 'fs'
Date
2020
all entries matching the year 2020
|
Date
2020-03|2020-04
all entries matching March or April, 2020
!
Date
!2020-03
all entries not matching March, 2020
<
Date
<2020
all entries before the year 2020
<=
Date
<=2020-06
all entries in or before June, 2020
>
Date
>2020-06
all entries after June, 2020
>=
Date
>=2020-06-15
all entries on or after June 15th, 2020
combination
Date
2019|2020 <2020-03
all entries in 2019 or 2020, and before March, 2020
Numeric
23
all entries exactly matching 23
|
Numeric
23|24
all entries exactly matching 23 or 24
!
Numeric
!23
all entries not exactly matching 23
<
Numeric
<23
all entries lower than 23
<=
Numeric
<=23
all entries lower than, or equal to, 23
>
Numeric
>23
all entries higher than 23
>=
Numeric
>=23
all entries higher than, or equal to, 23
combination
Numeric
>=20 <30 !23
all entries with values from 20 to 29, but not equal to 23
Some more advanced examples:
Example
Matches
Asian
all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian
all entries containing 'Asian' but not containing 'Caucasian'
Asian|African !Caucasian
all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"
all entries containing 'South Asian', but not containing 'South East Asian'
To sort on a certain column, click on the column header or on the arrows. If that column is already selected to sort on, the sort order will be swapped. The column currently sorted on has a darker blue background color than the other columns. The up and down arrows next to the column name indicate the current sorting direction. When sorting on any field other than the default, LOVD will sort secondarily on the default sort column.
119 entries on 2 pages. Showing entries 1 - 100.
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Individual ID
Reference
Ethnic origin
Remarks
Disease
Phenotype details
Variants
Panel size
Owner
00000986
Collinge J1, Palmer MS, Dryden AJ.(1991)
-
-
CJD
-
1
1
Y Yang
00000987
Goldfarb LG, Haltia M, Brown P, Nieto A, Kovanen J, McCombie WR, Trapp S, Gajdusek DC.(1991)
-
-
CJD
-
1
1
Y Yang
00000988
Goldgaber D1, Goldfarb LG, Brown P, Asher DM, Brown WT, Lin S, Teener JW, Feinstone SM, Rubenstein R, Kascsak RJ, et al.(1989)
-
-
CJD
-
1
1
Y Yang
00000989
Pocchiari M1, Salvatore M, Cutruzzolá F, Genuardi M, Allocatelli CT, Masullo C, Macchi G, Alemá G, Galgani S, Xi YG, et al.(1993)
-
-
CJD
-
1
1
Y Yang
00000990
Kitamoto T1, Ohta M, Doh-ura K, Hitoshi S, Terao Y, Tateishi J.(1993)
-
-
CJD
-
1
1
Y Yang
00000991
Kitamoto T1, Ohta M, Doh-ura K, Hitoshi S, Terao Y, Tateishi J.(1993)
-
-
CJD
-
1
1
Y Yang
00000992
Mastrianni JA1, Iannicola C, Myers RM, DeArmond S, Prusiner SB.(1996)
-
-
CJD
-
1
1
Y Yang
00000993
Peoc'h K1, Manivet P, Beaudry P, Attane F, Besson G, Hannequin D, Delasnerie-Lauprêtre N, Laplanche JL.(2000)
-
-
CJD
-
1
1
Y Yang
00000994
Peoc'h K1, Manivet P, Beaudry P, Attane F, Besson G, Hannequin D, Delasnerie-Lauprêtre N, Laplanche JL.(2000)
-
-
CJD
-
1
1
Y Yang
00000995
Peoc'h K1, Manivet P, Beaudry P, Attane F, Besson G, Hannequin D, Delasnerie-Lauprêtre N, Laplanche JL.(2000)
-
-
CJD
-
1
1
Y Yang
00000996
"
Mallucci GR1, Campbell TA, Dickinson A, Beck J, Holt M, Plant G, de Pauw KW, Hakin RN, Clarke CE, Howell S, Davies-Jones GA, Lawden M, Smith CM, Ince P, Ironside JW, Bridges LR(1999)
-
-
CJD
-
1
1
Y Yang
00000997
Appleby BS1, Appleby KK, Hall RC, Wallin MT.(2010)
-
-
CJD
-
1
1
Y Yang
00000998
Tartaglia MC1, Thai JN, See T, Kuo A, Harbaugh R, Raudabaugh B, Cali I, Sattavat M, Sanchez H, DeArmond SJ, Geschwind MD.(2010)
-
-
CJD
-
1
1
Y Yang
00000999
Krebs B1, Lederer RM, Windl O, Grasbon-Frodl EM, Zerr I, Kretzschmar HA.(2005)
-
-
CJD
-
1
1
Y Yang
00001000
Kotta K1, Paspaltsis I, Bostantjopoulou S, Latsoudis H, Plaitakis A, Kazis D, Collinge J, Sklaviadis T.(2006)
-
-
CJD
-
1
1
Y Yang
00001001
Heinemann U1, Krasnianski A, Meissner B, Grasbon-Frodl EM, Kretzschmar HA, Zerr I.(2008)
-
-
CJD
-
1
1
Y Yang
00001002
Roeber S1, Grasbon-Frodl EM, Windl O, Krebs B, Xiang W, Vollmert C, Illig T, Schr?ter A, Arzberger T, Weber P, Zerr I, Kretzschmar HA.(2008)
-
-
CJD
-
1
1
Y Yang
00001003
Roeber S1, Grasbon-Frodl EM, Windl O, Krebs B, Xiang W, Vollmert C, Illig T, Schr?ter A, Arzberger T, Weber P, Zerr I, Kretzschmar HA.(2008)
-
-
CJD
-
1
1
Y Yang
00001004
Ye J1, Han J, Shi Q, Zhang BY, Wang GR, Tian C, Gao C, Chen JM, Li CJ, Liu Z, Li XZ, Zhang LZ, Dong XP.(2008)
-
-
CJD
-
1
1
Y Yang
00001005
Polymenidou M1, Prokop S, Jung HH, Hewer E, Peretz D, Moos R, Tolnay M, Aguzzi A.(2011)
-
-
CJD
-
1
1
Y Yang
00001006
Pocchiari M1, Salvatore M, Cutruzzolá F, Genuardi M, Allocatelli CT, Masullo C, Macchi G, Alemá G, Galgani S, Xi YG, et al.(1993)
-
-
CJD
-
1
1
Y Yang
00001007
Pocchiari M1, Salvatore M, Cutruzzolá F, Genuardi M, Allocatelli CT, Masullo C, Macchi G, Alemá G, Galgani S, Xi YG, et al.(1993)
-
-
CJD
-
1
1
Y Yang
00001012
Cohen OS1, Chapman J, Lee H, Nitsan Z, Appel S, Hoffman C, Rosenmann H, Korczyn AD, Prohovnik I.(2011)
-
-
CJD
-
1
1
Y Yang
00001013
Polymenidou M1, Prokop S, Jung HH, Hewer E, Peretz D, Moos R, Tolnay M, Aguzzi A.(2011)
-
-
CJD
-
1
1
Y Yang
00001014
Schelzke G1, Eigenbrod S, Romero C, Varges D, Breithaupt M, Taratuto AL, Kretzschmar HA, Zerr I.(2011)
-
-
CJD
-
1
1
Y Yang
00001015
Shi Q1, Chen C, Song XN, Gao C, Tian C, Zhou W, Song XH, Yao LS, Han J, Dong XP.(2011)
Chinese
-
CJD
-
1
1
Y Yang
00001016
Chen C1, Shi Q, Tian C, Li Q, Zhou W, Gao C, Han J, Dong XP.(2011)
Chinese
-
CJD
-
1
1
Y Yang
00001017
Biljan I1, Ilc G, Giachin G, Raspadori A, Zhukov I, Plavec J, Legname G.(2011)
-
-
CJD
-
1
1
Y Yang
00001018
Takeda N1, Yokota O, Terada S, Haraguchi T, Nobukuni K, Mizuki R, Honda H, Yoshida H, Kishimoto Y, Oshima E, Ishizu H, Satoh K, Kitamoto T, Ihara Y, Uchitomi Y.(2012)
-
-
CJD
-
1
1
Y Yang
00001019
Breithaupt M1, Romero C, Kallenberg K, Begue C, Sanchez-Juan P, Eigenbrod S, Kretzschmar H, Schelzke G, Meichtry E, Taratuto A, Zerr I.(2013)
-
-
CJD
-
1
1
Y Yang
00001020
Breithaupt M1, Romero C, Kallenberg K, Begue C, Sanchez-Juan P, Eigenbrod S, Kretzschmar H, Schelzke G, Meichtry E, Taratuto A, Zerr I.(2013)
-
-
CJD
-
1
1
Y Yang
00001021
Matěj R1, Kovacs GG, Johanidesová S, Keller J, Matěj?ková M, Nováková J, Sigut V, Keller O, Rusina R.(2012)
-
-
CJD
-
1
1
Y Yang
00001022
Mu?oz-Nieto M1, Ramonet N, López-Gastón JI, Cuadrado-Corrales N, Calero O, Díaz-Hurtado M, Ipiens JR, Ramón y Cajal S, de Pedro-Cuesta J, Calero M.(2013)
-
-
CJD
-
1
1
Y Yang
00001023
Xie WL1, Shi Q, Xia SL, Zhang BY, Gong HS, Wang SB, Xu Y, Guo Y, Tian C, Zhang J, Xu BL, Liu Y, Dong XP.(2013)
-
-
CJD
-
1
1
Y Yang
00001024
Chen C1, Shi Q, Zhou W, Zhang XC, Dong JH, Hu XQ, Song XN, Liu AF, Tian C, Wang JC, Gao C, Zhang J, Han J, Dong XP.(2013)
-
-
CJD
-
1
1
Y Yang
00001025
Tian C1, Liu D, Chen C, Xu Y, Gong HS, Chen C, Shi Q, Zhang BY, Han J, Dong XP.(2013)
-
-
CJD
-
1
1
Y Yang
00001026
Iwasaki Y1, Yokoi F, Tatsumi S, Mimuro M, Iwai K, Kitamoto T, Yoshida M.(2013)
Chinese
-
CJD
-
1
1
Y Yang
00001027
Shi Q1, Chen C, Wang XJ, Zhou W, Wang JC, Zhang BY, Gao C, Gao C, Han J, Dong XP.(2013)
-
-
CJD
-
1
1
Y Yang
00001028
Zhang H1, Wang M2, Wu L3, Zhang H1, Jin T1, Wu J1, Sun L4.(2014)
-
-
CJD
-
1
1
Y Yang
00001029
Simpson M1, Johanssen V, Boyd A, Klug G, Masters CL, Li QX, Pamphlett R, McLean C, Lewis V, Collins SJ.(2013)
-
-
CJD
-
1
1
Y Yang
00001030
Marcon G1, Indaco A, Di Fede G, Suardi S, Finato N, Moretti V, Micoli S, Fociani P, Zerbi P, Pincherle A, Redaelli V, Tagliavini F, Giaccone G.(2014)
-
-
CJD
-
1
1
Y Yang
00001031
"
Qina T1, Sanjo N1, Hizume M1, Higuma M1, Tomita M2, Atarashi R3, Satoh K3, Nozaki I4, Hamaguchi T5, Nakamura Y6, Kobayashi A7, Kitamoto T7, Murayama S8, Murai H9, Yamada M5(2014)
-
-
CJD
-
1
1
Y Yang
00001032
Cheng CJ, Daggett V.(2014)
-
-
CJD
-
1
1
Y Yang
00001033
Cheng CJ, Daggett V.(2014)
-
-
CJD
-
1
1
Y Yang
00001034
Lee SM, Chung M, Hwang KJ, Ju YR, Hyeon JW, Park JS, Kim CK, Choi S, Lee J, Kim SY1.(2014)
-
-
CJD
-
1
1
Y Yang
00001035
Cohen OS1, Chapman J, Korczyn AD, Warman-Alaluf N, Orlev Y, Givaty G, Nitsan Z, Appel S, Rosenmann H, Kahana E, Shechter-Amir D.(2015)
-
-
CJD
-
1
1
Y Yang
00001036
Lim JG1, Oh E, Park S, Kim YS, Lee A.(2014)
-
-
CJD
-
1
1
Y Yang
00001037
Cohen OS1, Chapman J, Korczyn AD, Nitsan Z, Appel S, Hoffmann C, Rosenmann H, Kahana E, Lee H.(2014)
-
-
CJD
-
1
1
Y Yang
00001038
Komatsu J1, Sakai K, Hamaguchi T, Sugiyama Y, Iwasa K, Yamada M.(2014)
-
-
CJD
-
1
1
Y Yang
00001039
Shi Q1, Shen XJ, Zhou W, Xiao K, Zhang XM, Zhang BY, Dong XP.(2014)
-
-
CJD
-
1
1
Y Yang
00001040
Minikel EV1, Zerr I2, Collins SJ3, Ponto C4, Boyd A3, Klug G3, Karch A4, Kenny J5, Collinge J5, Takada LT6, Forner S6, Fong JC6, Mead S5, Geschwind MD6.(2014)
-
-
CJD
-
1
1
Y Yang
00001041
Salazar R1, Cerghet M, Ramachandran V.(2014)
-
-
CJD
-
1
1
Y Yang
00001305
Chapman J1, Arlazoroff A, Goldfarb LG, Cervenakova L, Neufeld MY, Werber E, Herbert M, Brown P, Gajdusek DC, Korczyn AD.(1996)
-
-
FFI
-
1
1
Y Yang
00001306
Kretzschmar HA1, Neumann M, Stavrou D.(1995)
-
-
FFI
-
1
1
Y Yang
00001307
Gemignani A1, Laurino M, Provini F, Piarulli A, Barletta G, d'Ascanio P, Bedini R, Lodi R, Manners DN, Allegrini P, Menicucci D, Cortelli P.(2012)
-
-
FFI
-
1
1
Y Yang
00001308
Marcon G1, Indaco A, Di Fede G, Suardi S, Finato N, Moretti V, Micoli S, Fociani P, Zerbi P, Pincherle A, Redaelli V, Tagliavini F, Giaccone G.(2014)
-
-
FFI
-
1
1
Y Yang
00001309
Chen S1, Guan M2, Shang JK1, He S1, Zhang ML1, Ma MM1, Zhang JW3.(2015)
-
-
FFI
-
1
1
Y Yang
00001310
Feng B1, Wang Z1, Liu T1, Jin R1, Wang S1, Wang W1, Xiao G2, Zhou Z3.(2014)
-
-
FFI
-
1
1
Y Yang
00001473
Hsiao K1, Baker HF, Crow TJ, Poulter M, Owen F, Terwilliger JD, Westaway D, Ott J, Prusiner SB.(1989)
-
-
GSS
-
1
1
Y Yang
00001474
Doh-ura K1, Tateishi J, Sasaki H, Kitamoto T, Sakaki Y.(1989)
-
-
GSS
-
1
1
Y Yang
00001475
Tranchant C1, Doh-Ura K, Steinmetz G, Chevalier Y, Kitamoto T, Tateishi J, Warter JM.(1991)
-
-
GSS
-
1
1
Y Yang
00001476
Hsiao K1, Dlouhy SR, Farlow MR, Cass C, Da Costa M, Conneally PM, Hodes ME, Ghetti B, Prusiner SB.(1992)
-
-
GSS
-
1
1
Y Yang
00001477
Hsiao K1, Dlouhy SR, Farlow MR, Cass C, Da Costa M, Conneally PM, Hodes ME, Ghetti B, Prusiner SB.(1992)
-
-
GSS
-
1
1
Y Yang
00001478
Yamada M1, Itoh Y, Fujigasaki H, Naruse S, Kaneko K, Kitamoto T, Tateishi J, Otomo E, Hayakawa M, Tanaka J, et al.(1993)
-
-
GSS
-
1
1
Y Yang
00001479
Panegyres PK1, Toufexis K, Kakulas BA, Cernevakova L, Brown P, Ghetti B, Piccardo P, Dlouhy SR.(2001)
-
-
GSS
-
1
1
Y Yang
00001480
Bütefisch CM1, Gambetti P, Cervenakova L, Park KY, Hallett M, Goldfarb LG.(2000)
-
-
GSS
-
1
1
Y Yang
00001481
Rowe DB1, Lewis V, Needham M, Rodriguez M, Boyd A, McLean C, Roberts H, Masters CL, Collins SJ.(2007)
-
-
GSS
-
1
1
Y Yang
00001482
Tunnell E1, Wollman R, Mallik S, Cortes CJ, Dearmond SJ, Mastrianni JA.(2008)
-
-
GSS
-
1
1
Y Yang
00001483
Doh-ura K, Kitamoto T, Sakaki Y, Tateishi J.(1991)
-
-
GSS
-
1
1
Y Yang
00001484
Kitamoto T1, Iizuka R, Tateishi J.(1993)
-
-
GSS
-
1
1
Y Yang
00001485
Tanaka Y1, Minematsu K, Moriyasu H, Yamaguchi T, Yutani C, Kitamoto T, Furukawa H.(1997)
-
-
GSS
-
1
1
Y Yang
00001486
Bratosiewicz J1, Barcikowska M, Cervenakowa L, Brown P, Gajdusek DC, Liberski PP.(2000)
-
-
GSS
-
1
1
Y Yang
00001487
"
Alzualde A1, Indakoetxea B, Ferrer I, Moreno F, Barandiaran M, Gorostidi A, Estanga A, Ruiz I, Calero M, van Leeuwen FW, Atares B, Juste R, Rodriguez-Martínez AB(2010)
-
-
GSS
-
1
1
Y Yang
00001488
Rowe DB1, Lewis V, Needham M, Rodriguez M, Boyd A, McLean C, Roberts H, Masters CL, Collins SJ.(2007)
-
-
GSS
-
1
1
Y Yang
00001489
Goldfarb LG, Haltia M, Brown P, Nieto A, Kovanen J, McCombie WR, Trapp S, Gajdusek DC.(1991)
-
-
GSS
-
1
1
Y Yang
00001490
Collins S1, McLean CA, Masters CL.(2001)
-
-
GSS
-
1
1
Y Yang
00001491
Jansen C1, Parchi P, Capellari S, Strammiello R, Dopper EG, van Swieten JC, Kamphorst W, Rozemuller AJ.(2011)
Dutch
-
GSS
-
1
1
Y Yang
00001492
Kojovi? M, Glava? D, O?ek B, Zupan A, Popovi? M.(2011)
-
-
GSS
-
1
1
Y Yang
00001493
Monaco S1, Fiorini M, Farinazzo A, Ferrari S, Gelati M, Piccardo P, Zanusso G, Ghetti B.(2012)
-
-
GSS
-
1
1
Y Yang
00001494
Jones M1, Odunsi S1, du Plessis D1, Vincent A1, Bishop M1, Head MW1, Ironside JW1, Gow D2.(2014)
-
-
GSS
-
1
1
Y Yang
00001495
Simpson M1, Johanssen V, Boyd A, Klug G, Masters CL, Li QX, Pamphlett R, McLean C, Lewis V, Collins SJ.(2013)
-
-
GSS
-
1
1
Y Yang
00001713
Themistocleous AC1, Kennett R, Husain M, Palace J, Mead S, Bennett DL.(2014)
-
-
HSAN
-
1
1
Y Yang
00001930
Cervenáková L1, Goldfarb LG, Garruto R, Lee HS, Gajdusek DC, Brown P.(1998)
-
-
KURU
-
1
1
Y Yang
00002212
Koide T1, Ohtake H, Nakajima T, Furukawa H, Sakai K, Kamei H, Makifuchi T, Fukuhara N.(2002)
-
-
DLB
-
1
1
Y Yang
00005162
Zhang W et al. (2016)
-
associate
AD
-
1
1
XY Liu
00005163
Zhang W et al. (2016)
-
associate
AD
-
1
1
XY Liu
00005164
Zhang W et al. (2016)
-
associate
AD
-
1
1
XY Liu
00005165
Zhang W et al. (2016)
-
associate
AD
-
1
1
XY Liu
00005170
Ch'ng GS et al.(2015)
-
might damage
AD
-
1
1
XY Liu
00005429
Chen S et al. (2015)
-
-
CJD
-
1
1
XY Liu
00005430
Peden AH et al. (2014)
-
-
CJD
-
1
1
XY Liu
00005431
Shi Q et al. (2014)
Chinese
-
CJD
-
1
1
XY Liu
00005432
Komatsu J et al. (2014)
-
-
CJD
-
1
1
XY Liu
00005433
Lim JG et al. (2015)
-
-
CJD
-
1
1
XY Liu
00005434
Amano Y et al. (2015)
-
-
CJD
-
1
1
XY Liu
00005435
Kon T et al. (2015)
-
-
CJD
-
1
1
XY Liu
00005436
Koh K et al. (2015)
-
-
CJD
-
2
1
XY Liu
00005437
Imbriani P et al. (2016)
-
-
CJD
-
1
1
XY Liu
00005438
Cohen OS et al. (2016)
-
-
CJD
-
1
1
XY Liu
00005439
Shi Q et al. (2016)
Chinese
-
CJD
-
1
1
XY Liu
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