NDDVD - Neurodegenerative Diseases Variation Database
PRNP (prion protein)
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Curator:
Y Yang
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Full data view for gene PRNP
The variants shown are described using the NM_000311.3 transcript reference sequence.
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.
Effect
: The variant's effect on the function of the gene/protein, displayed in the format 'R/C'. R is the value reported by the source (publication, submitter) and this classification may vary between records. C is the value concluded by the curator. Note that in some database the curator uses Summary records to give details on the classification of the variant.Values used: '+' indicating the variant affects function, '+?' probably affects function, '-' does not affect function, '-?' probably does not affect function, '?' effect unknown, '.' effect was not classified.
Exon
: Number of exon/intron containing variant; 2 = exon 2, 12i = intron 12, 2i_7i = exons 3 to 7, 8i_9 = border intron 8/exon 9.
DNA change (cDNA)
: Description of variant at DNA level, based on a coding DNA reference sequence (following HGVS recommendations); e.g. c.123C>T, c.123_145del, c.123_126dup.
RNA change
: Description of variant at RNA level (following HGVS recommendations).
r.123c>u
r.? = unknown
r.(?) = RNA not analysed but probably transcribed copy of DNA variant
r.spl? = RNA not analysed but variant probably affects splicing
r.(spl?) = RNA not analysed but variant may affect splicing
r.0? = change expected to abolish transcription
Protein
: Description of variant at protein level (following HGVS recommendations).
p.(Arg345Pro) = change predicted from DNA (RNA not analysed)
p.Arg345Pro = change derived from RNA analysis
p.? = unknown effect
p.0? = probably no protein produced
Variant/VariO/DNA
: VariO of DNA
Variant/VariO/protein
: VariO of protein
Allele
: On which allele is the variant located? Does not necessarily imply inheritance! 'Paternal' (confirmed or inferred), 'Maternal' (confirmed or inferred), 'Parent #1' or #2 for compound heterozygosity without having screened the parents, 'Unknown' for heterozygosity without having screened the parents, 'Both' for homozygozity.
DNA change (genomic) (hg19)
: Description of variant at DNA level, based on the genomic DNA reference sequence (following HGVS recommendations).
g.12345678C>T
g.12345678_12345890del
g.12345678_12345890dup
Reference
: Reference to publication describing the variant, including links to OMIM (when available), PubMed or or other source, e.g. "den Dunnen ASHG2003 P2346".
DB-ID
: Database ID of variant, grouping multiple observations of the same variant together, starting with the HGNC gene symbol, followed by an underscore (_) and a six digit number (e.g. DMD_012345). _000000 is used for variants where DNA was not analysed (change predicted from RNA analysis), variants seen in animal models or variants not seen in humans but functionally tested in vitro.
Frequency
: Frequency in which the variant was found; e.g 5/760 chromosomes (in 5 of 760 chromosomes tested), 1/33 patients (in 1 of 33 patients analysed in study), 0.05 controls (in 5% of control cases tested).
Template
: Template(s) used to detect the sequence variant; DNA = genomic DNA, RNA = RNA (cDNA).
All options:
DNA
RNA = RNA (cDNA)
Protein
? = unknown
Technique
: Technique(s) used to identify the sequence variant.
All options:
? = Unknown
arrayCGH = array for Comparative Genomic Hybridisation
arraySEQ = array for resequencing
arraySNP = array for SNP typing
arrayCNV = array for Copy Number Variation (SNP and CNV probes)
BESS = Base Excision Sequence Scanning
CMC = Chemical Mismatch Cleavage
CSCE = Conformation Sensitive Capillary Electrophoresis
DGGE = Denaturing-Gradient Gel-Electrophoresis
DHPLC = Denaturing High-Performance Liquid Chromatography
DOVAM = Detection Of Virtually All Mutations (SSCA variant)
ddF = dideoxy Fingerprinting
DSCA = Double-Strand DNA Conformation Analysis
EMC = Enzymatic Mismatch Cleavage
HD = HeteroDuplex analysis
MCA = high-resolution Melting Curve Analysis (hrMCA)
IHC = Immuno-Histo-Chemistry
MAPH = Multiplex Amplifiable Probe Hybridisation
MLPA = Multiplex Ligation-dependent Probe Amplification
SEQ-NG = Next-Generation Sequencing
SEQ-NG-H = Next-Generation Sequencing - Helicos
SEQ-NG-I = Next-Generation Sequencing - Illumina/Solexa
SEQ-NG-R = Next-Generation Sequencing - Roche/454
SEQ-NG-S = Next-Generation Sequencing - SOLiD
Northern = Northern blotting
PCR = Polymerase Chain Reaction
PCRdig = PCR + restriction enzyme digestion
PCRlr = PCR, long-range
PCRm = PCR, multiplex
PCRq = PCR, quantitative
PAGE = Poly-Acrylamide Gel-Electrophoresis
PTT = Protein Truncation Test
PFGE = Pulsed-Field Gel-Electrophoresis (+Southern)
RT-PCR = Reverse Transcription and PCR
SEQ = SEQuencing
SBE = Single Base Extension
SSCA = Single-Strand DNA Conformation polymorphism Analysis (SSCP)
SSCAf = SSCA, fluorescent (SSCP)
Southern = Southern blotting
TaqMan = TaqMan assay
Western = Western Blotting
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.
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.
120 entries on 2 pages. Showing entries 1 - 100.
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Effect
Exon
DNA change (cDNA)
RNA change
Protein
Variant/VariO/DNA
Variant/VariO/protein
Allele
DNA change (genomic) (hg19)
Reference
DB-ID
Frequency
Template
Technique
Disease
Reference
Ethnic origin
Remarks
Panel size
Owner
./.
2
c.116C>T
r.(?)
p.(Pro39Leu)
-
-
Unknown
g.4679982C>T
Oldoni E et al. (2016)
PRNP_000043
-
?
?
FTLD
Oldoni E et al. (2016)
Italian
-
1
XY Liu
./.
2
c.142C>A
r.(?)
p.(Arg48Ser)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
Unknown
g.4680008C>A
Jones M1, Odunsi S1, du Plessis D1, Vincent A1, Bishop M1, Head MW1, Ironside JW1, Gow D2.(2014)
PRNP_000036
-
?
?
GSS
Jones M1, Odunsi S1, du Plessis D1, Vincent A1, Bishop M1, Head MW1, Ironside JW1, Gow D2.(2014)
-
-
1
Y Yang
./.
2
c.160_183del24
r.(?)
p.(Pro84_Gln91del)
VariO:0141 DNA deletion
VariO:0016 sequence retaining amino acid deletion
Unknown
g.4680026_4680049del24
Pocchiari M1, Salvatore M, Cutruzzolá F, Genuardi M, Allocatelli CT, Masullo C, Macchi G, Alemá G, Galgani S, Xi YG, et al.(1993)
PRNP_000037
-
?
?
CJD
Pocchiari M1, Salvatore M, Cutruzzolá F, Genuardi M, Allocatelli CT, Masullo C, Macchi G, Alemá G, Galgani S, Xi YG, et al.(1993)
-
-
1
Y Yang
./.
2
c.184_207del24
r.(?)
p.(Pro84_Gln91del)
VariO:0141 DNA deletion
VariO:0016 sequence retaining amino acid deletion
Unknown
g.4680050_4680073del24
Pocchiari M1, Salvatore M, Cutruzzolá F, Genuardi M, Allocatelli CT, Masullo C, Macchi G, Alemá G, Galgani S, Xi YG, et al.(1993)
PRNP_000038
-
?
?
CJD
Pocchiari M1, Salvatore M, Cutruzzolá F, Genuardi M, Allocatelli CT, Masullo C, Macchi G, Alemá G, Galgani S, Xi YG, et al.(1993)
-
-
1
Y Yang
./.
2
c.250C>T
r.(?)
p.(Pro84Ser)
-
-
Unknown
g.4680116C>T
Jones M et al. (2014)
PRNP_000042
-
?
?
GSS
Jones M et al. (2014)
-
-
1
XY Liu
./.
2
c.305C>T
r.(?)
p.(Pro102Leu)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
VariO:0021 amino acid substitution
Unknown
g.4680171C>T
Hsiao K1, Baker HF, Crow TJ, Poulter M, Owen F, Terwilliger JD, Westaway D, Ott J, Prusiner SB.(1989)
PRNP_000024
XYZ19940216
?
?
GSS
Hsiao K1, Baker HF, Crow TJ, Poulter M, Owen F, Terwilliger JD, Westaway D, Ott J, Prusiner SB.(1989)
-
-
1
Y Yang
./.
2
c.305C>T
r.(?)
p.(Pro102Leu)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
VariO:0021 amino acid substitution
Unknown
g.4680171C>T
Kojovi? M, Glava? D, O?ek B, Zupan A, Popovi? M.(2011)
PRNP_000024
-
?
?
GSS
Kojovi? M, Glava? D, O?ek B, Zupan A, Popovi? M.(2011)
-
-
1
Y Yang
./.
2
c.305C>T
r.(?)
p.(Pro102Leu)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
VariO:0021 amino acid substitution
Unknown
g.4680171C>T
Monaco S1, Fiorini M, Farinazzo A, Ferrari S, Gelati M, Piccardo P, Zanusso G, Ghetti B.(2012)
PRNP_000024
-
?
?
GSS
Monaco S1, Fiorini M, Farinazzo A, Ferrari S, Gelati M, Piccardo P, Zanusso G, Ghetti B.(2012)
-
-
1
Y Yang
./.
2
c.305C>T
r.(?)
p.(Pro102Leu)
-
-
Unknown
g.4680171C>T
Riudavets MA et al. (2014)
PRNP_000024
-
?
?
GSS
Riudavets MA et al. (2014)
-
-
1
XY Liu
./.
2
c.305C>T
r.(?)
p.(Pro102Leu)
-
-
Unknown
g.4680171C>T
Ando R et al. (2016)
PRNP_000024
-
?
?
GSS
Ando R et al. (2016)
-
-
1
XY Liu
./.
2
c.305C>T
r.(?)
p.(Pro102Leu)
-
-
Unknown
g.4680171C>T
Pirisinu L et al. (2016)
PRNP_000024
-
?
?
GSS
Pirisinu L et al. (2016)
-
-
1
XY Liu
./.
2
c.305C>T
r.(?)
p.(Pro102Leu)
-
-
Unknown
g.4680171C>T
Deters KD et al. (2016)
PRNP_000024
-
?
?
GSS
Deters KD et al. (2016)
-
-
1
XY Liu
./.
2
c.305C>T
r.(?)
p.(Pro102Leu)
-
-
Unknown
g.4680171C>T
Sugiyama A et al. (2017)
PRNP_000024
-
?
?
GSS
Sugiyama A et al. (2017)
-
-
1
XY Liu
./.
2
c.305C>T
r.(?)
p.(Pro102Leu)
-
-
Unknown
g.4680171C>T
Long L et al. (2017)
PRNP_000024
-
?
?
GSS
Long L et al. (2017)
southern China
-
1
XY Liu
./.
2
c.313C>A
r.(?)
p.(Pro105Thr)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
Unknown
g.4680179C>A
Polymenidou M1, Prokop S, Jung HH, Hewer E, Peretz D, Moos R, Tolnay M, Aguzzi A.(2011)
PRNP_000019
-
?
?
CJD
Polymenidou M1, Prokop S, Jung HH, Hewer E, Peretz D, Moos R, Tolnay M, Aguzzi A.(2011)
-
-
1
Y Yang
./.
2
c.313C>A
r.(?)
p.(Pro105Thr)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
Unknown
g.4680179C>A
Polymenidou M1, Prokop S, Jung HH, Hewer E, Peretz D, Moos R, Tolnay M, Aguzzi A.(2011)
PRNP_000019
-
?
?
CJD
Polymenidou M1, Prokop S, Jung HH, Hewer E, Peretz D, Moos R, Tolnay M, Aguzzi A.(2011)
-
-
1
Y Yang
./.
2
c.313C>T
r.(?)
p.(Pro105Ser)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
VariO:0021 amino acid substitution
Unknown
g.4680179C>T
Tunnell E1, Wollman R, Mallik S, Cortes CJ, Dearmond SJ, Mastrianni JA.(2008)
PRNP_000031
-
?
?
GSS
Tunnell E1, Wollman R, Mallik S, Cortes CJ, Dearmond SJ, Mastrianni JA.(2008)
-
-
1
Y Yang
./.
2
c.314C>T
r.(?)
p.(Pro105Leu)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
VariO:0021 amino acid substitution
Unknown
g.4680180C>T
Yamada M1, Itoh Y, Fujigasaki H, Naruse S, Kaneko K, Kitamoto T, Tateishi J, Otomo E, Hayakawa M, Tanaka J, et al.(1993)
PRNP_000027
-
?
?
GSS
Yamada M1, Itoh Y, Fujigasaki H, Naruse S, Kaneko K, Kitamoto T, Tateishi J, Otomo E, Hayakawa M, Tanaka J, et al.(1993)
-
-
1
Y Yang
./.
2
c.314C>T
r.(?)
p.(Pro105Leu)
-
-
Unknown
g.4680180C>T
Mano KK et al. (2016)
PRNP_000027
-
?
?
GSS, PD
Mano KK et al. (2016)
-
-
1
XY Liu
./.
2
c.341G>T
r.(?)
p.(Gly114Val)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
Unknown
g.4680207G>T
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)
PRNP_000018
-
?
?
CJD
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)
-
-
1
Y Yang
./.
2
c.341G>T
r.(?)
p.(Gly114Val)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
Unknown
g.4680207G>T
Tian C1, Liu D, Chen C, Xu Y, Gong HS, Chen C, Shi Q, Zhang BY, Han J, Dong XP.(2013)
PRNP_000018
-
?
?
CJD
Tian C1, Liu D, Chen C, Xu Y, Gong HS, Chen C, Shi Q, Zhang BY, Han J, Dong XP.(2013)
-
-
1
Y Yang
./.
2
c.350C>T
r.(?)
p.(Ala117Val)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
VariO:0021 amino acid substitution
Unknown
g.4680216C>T
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, Dean A, Weeks I, Collinge J.(1999)
PRNP_000011
-
?
?
CJD
"
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)
-
-
1
Y Yang
./.
2
c.350C>T
r.(?)
p.(Ala117Val)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
VariO:0021 amino acid substitution
Unknown
g.4680216C>T
Doh-ura K1, Tateishi J, Sasaki H, Kitamoto T, Sakaki Y.(1989)
PRNP_000011
-
?
?
GSS
Doh-ura K1, Tateishi J, Sasaki H, Kitamoto T, Sakaki Y.(1989)
-
-
1
Y Yang
./.
2
c.350C>T
r.(?)
p.(Ala117Val)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
VariO:0021 amino acid substitution
Unknown
g.4680216C>T
Tranchant C1, Doh-Ura K, Steinmetz G, Chevalier Y, Kitamoto T, Tateishi J, Warter JM.(1991)
PRNP_000011
-
?
?
GSS
Tranchant C1, Doh-Ura K, Steinmetz G, Chevalier Y, Kitamoto T, Tateishi J, Warter JM.(1991)
-
-
1
Y Yang
./.
2
c.350C>T
r.(?)
p.(Ala117Val)
-
-
Unknown
g.4680216C>T
Pirisinu L et al. (2016)
PRNP_000011
-
?
?
GSS
Pirisinu L et al. (2016)
-
-
1
XY Liu
./.
2
c.379G>A
r.(?)
p.(Gly127Ser)
-
-
Unknown
g.4680245G>A
Ch'ng GS et al.(2015)
PRNP_000041
-
?
?
AD
Ch'ng GS et al.(2015)
-
might damage
1
XY Liu
./.
2
c.385A>G
r.(?)
p.(Met129Val)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
Unknown
g.4680251A>G
Collinge J1, Palmer MS, Dryden AJ.(1991)
PRNP_000001
-
?
?
CJD
Collinge J1, Palmer MS, Dryden AJ.(1991)
-
-
1
Y Yang
./.
2
c.385A>G
r.(?)
p.(Met129Val)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
Unknown
g.4680251A>G
Doh-ura K, Kitamoto T, Sakaki Y, Tateishi J.(1991)
PRNP_000001
-
?
?
GSS
Doh-ura K, Kitamoto T, Sakaki Y, Tateishi J.(1991)
-
-
1
Y Yang
./.
2
c.385A>G
r.(?)
p.(Met129Val)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
Unknown
g.4680251A>G
Cervenáková L1, Goldfarb LG, Garruto R, Lee HS, Gajdusek DC, Brown P.(1998)
PRNP_000001
-
?
?
KURU
Cervenáková L1, Goldfarb LG, Garruto R, Lee HS, Gajdusek DC, Brown P.(1998)
-
-
1
Y Yang
./.
2
c.392G>T
r.(?)
p.(Gly131Val)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
Unknown
g.4680258G>T
Panegyres PK1, Toufexis K, Kakulas BA, Cernevakova L, Brown P, Ghetti B, Piccardo P, Dlouhy SR.(2001)
PRNP_000028
-
?
?
GSS
Panegyres PK1, Toufexis K, Kakulas BA, Cernevakova L, Brown P, Ghetti B, Piccardo P, Dlouhy SR.(2001)
-
-
1
Y Yang
./.
2
c.392G>T
r.(?)
p.(Gly131Val)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
Unknown
g.4680258G>T
Jansen C1, Parchi P, Capellari S, Strammiello R, Dopper EG, van Swieten JC, Kamphorst W, Rozemuller AJ.(2011)
PRNP_000028
-
?
?
GSS
Jansen C1, Parchi P, Capellari S, Strammiello R, Dopper EG, van Swieten JC, Kamphorst W, Rozemuller AJ.(2011)
Dutch
-
1
Y Yang
./.
2
c.398C>T
r.(?)
p.(Ala133Val)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
VariO:0021 amino acid substitution
Unknown
g.4680264C>T
Rowe DB1, Lewis V, Needham M, Rodriguez M, Boyd A, McLean C, Roberts H, Masters CL, Collins SJ.(2007)
PRNP_000030
-
?
?
GSS
Rowe DB1, Lewis V, Needham M, Rodriguez M, Boyd A, McLean C, Roberts H, Masters CL, Collins SJ.(2007)
-
-
1
Y Yang
./.
2
c.398C>T
r.(?)
p.(Ala133Val)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
VariO:0021 amino acid substitution
Unknown
g.4680264C>T
Rowe DB1, Lewis V, Needham M, Rodriguez M, Boyd A, McLean C, Roberts H, Masters CL, Collins SJ.(2007)
PRNP_000030
-
?
?
GSS
Rowe DB1, Lewis V, Needham M, Rodriguez M, Boyd A, McLean C, Roberts H, Masters CL, Collins SJ.(2007)
-
-
1
Y Yang
./.
2
c.435T>A
r.(?)
p.(Tyr145*)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0015 protein truncation
Unknown
g.4680301T>A
Kitamoto T1, Iizuka R, Tateishi J.(1993)
PRNP_000032
-
?
?
GSS
Kitamoto T1, Iizuka R, Tateishi J.(1993)
-
-
1
Y Yang
./.
2
c.435T>A
r.(?)
p.(Tyr145*)
-
-
Unknown
g.4680301T>A
Zhang W et al. (2016)
PRNP_000032
-
?
?
AD
Zhang W et al. (2016)
-
associate
1
XY Liu
./.
2
c.443G>A
r.(?)
p.(Arg148His)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
Unknown
g.4680309G>A
Krebs B1, Lederer RM, Windl O, Grasbon-Frodl EM, Zerr I, Kretzschmar HA.(2005)
PRNP_000014
-
?
?
CJD
Krebs B1, Lederer RM, Windl O, Grasbon-Frodl EM, Zerr I, Kretzschmar HA.(2005)
-
-
1
Y Yang
./.
2
c.478C>T
r.(?)
p.(Gln160*)
-
-
Unknown
g.4680344C>T
Zhang W et al. (2016)
PRNP_000040
-
?
?
AD
Zhang W et al. (2016)
-
associate
1
XY Liu
./.
2
c.489C>A
r.(?)
p.(Tyr163*)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0015 protein truncation
Unknown
g.4680355C>A
Themistocleous AC1, Kennett R, Husain M, Palace J, Mead S, Bennett DL.(2014)
PRNP_000039
-
?
?
HSAN
Themistocleous AC1, Kennett R, Husain M, Palace J, Mead S, Bennett DL.(2014)
-
-
1
Y Yang
./.
2
c.512A>G
r.(?)
p.(Asn171Ser)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
Unknown
g.4680378A>G
Appleby BS1, Appleby KK, Hall RC, Wallin MT.(2010)
PRNP_000012
-
?
?
CJD
Appleby BS1, Appleby KK, Hall RC, Wallin MT.(2010)
-
-
1
Y Yang
./.
2
c.527T>G
r.(?)
p.(Val176Gly)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
Unknown
g.4680393T>G
Simpson M1, Johanssen V, Boyd A, Klug G, Masters CL, Li QX, Pamphlett R, McLean C, Lewis V, Collins SJ.(2013)
PRNP_000022
-
?
?
CJD
Simpson M1, Johanssen V, Boyd A, Klug G, Masters CL, Li QX, Pamphlett R, McLean C, Lewis V, Collins SJ.(2013)
-
-
1
Y Yang
./.
2
c.527T>G
r.(?)
p.(Val176Gly)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
Unknown
g.4680393T>G
Simpson M1, Johanssen V, Boyd A, Klug G, Masters CL, Li QX, Pamphlett R, McLean C, Lewis V, Collins SJ.(2013)
PRNP_000022
-
?
?
GSS
Simpson M1, Johanssen V, Boyd A, Klug G, Masters CL, Li QX, Pamphlett R, McLean C, Lewis V, Collins SJ.(2013)
-
-
1
Y Yang
./.
2
c.532G>A
r.(?)
p.(Asp178Asn)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
Unknown
g.4680398G>A
Goldfarb LG, Haltia M, Brown P, Nieto A, Kovanen J, McCombie WR, Trapp S, Gajdusek DC.(1991)
PRNP_000002
-
?
?
CJD
Goldfarb LG, Haltia M, Brown P, Nieto A, Kovanen J, McCombie WR, Trapp S, Gajdusek DC.(1991)
-
-
1
Y Yang
./.
2
c.532G>A
r.(?)
p.(Asp178Asn)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
Unknown
g.4680398G>A
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)
PRNP_000002
-
?
?
CJD
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)
-
-
1
Y Yang
./.
2
c.532G>A
r.(?)
p.(Asp178Asn)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
Unknown
g.4680398G>A
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)
PRNP_000002
-
?
?
CJD
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)
-
-
1
Y Yang
./.
2
c.532G>A
r.(?)
p.(Asp178Asn)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
Unknown
g.4680398G>A
Kretzschmar HA1, Neumann M, Stavrou D.(1995)
PRNP_000002
-
?
?
FFI
Kretzschmar HA1, Neumann M, Stavrou D.(1995)
-
-
1
Y Yang
./.
2
c.532G>A
r.(?)
p.(Asp178Asn)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
Unknown
g.4680398G>A
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)
PRNP_000002
-
?
?
FFI
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)
-
-
1
Y Yang
./.
2
c.532G>A
r.(?)
p.(Asp178Asn)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
Unknown
g.4680398G>A
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)
PRNP_000002
-
?
?
FFI
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)
-
-
1
Y Yang
./.
2
c.532G>A
r.(?)
p.(Asp178Asn)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
Unknown
g.4680398G>A
Chen S1, Guan M2, Shang JK1, He S1, Zhang ML1, Ma MM1, Zhang JW3.(2015)
PRNP_000002
-
?
?
FFI
Chen S1, Guan M2, Shang JK1, He S1, Zhang ML1, Ma MM1, Zhang JW3.(2015)
-
-
1
Y Yang
./.
2
c.532G>A
r.(?)
p.(Asp178Asn)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
Unknown
g.4680398G>A
Feng B1, Wang Z1, Liu T1, Jin R1, Wang S1, Wang W1, Xiao G2, Zhou Z3.(2014)
PRNP_000002
-
?
?
FFI
Feng B1, Wang Z1, Liu T1, Jin R1, Wang S1, Wang W1, Xiao G2, Zhou Z3.(2014)
-
-
1
Y Yang
./.
2
c.532G>A
r.(?)
p.(Asp178Asn)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
Unknown
g.4680398G>A
Goldfarb LG, Haltia M, Brown P, Nieto A, Kovanen J, McCombie WR, Trapp S, Gajdusek DC.(1991)
PRNP_000002
-
?
?
GSS
Goldfarb LG, Haltia M, Brown P, Nieto A, Kovanen J, McCombie WR, Trapp S, Gajdusek DC.(1991)
-
-
1
Y Yang
./.
2
c.532G>A
r.(?)
p.(Asp178Asn)
-
-
Unknown
g.4680398G>A
Zhang W et al. (2016)
PRNP_000002
-
?
?
AD
Zhang W et al. (2016)
-
associate
1
XY Liu
./.
2
c.532G>A
r.(?)
p.(Asp178Asn)
-
-
Unknown
g.4680398G>A
Chen S et al. (2015)
PRNP_000002
-
?
?
CJD
Chen S et al. (2015)
-
-
1
XY Liu
./.
2
c.532G>A
r.(?)
p.(Asp178Asn)
-
-
Unknown
g.4680398G>A
Lee MJ et al. (2014)
PRNP_000002
-
?
?
FFI
Lee MJ et al. (2014)
Korean
-
1
XY Liu
./.
2
c.532G>A
r.(?)
p.(Asp178Asn)
-
-
Unknown
g.4680398G>A
Megelin T et al. (2017)
PRNP_000002
-
?
?
FFI
Megelin T et al. (2017)
-
-
1
XY Liu
./.
2
c.538G>A
r.(?)
p.(Val180Ile)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
Unknown
g.4680404G>A
Kitamoto T1, Ohta M, Doh-ura K, Hitoshi S, Terao Y, Tateishi J.(1993)
PRNP_000005
-
?
?
CJD
Kitamoto T1, Ohta M, Doh-ura K, Hitoshi S, Terao Y, Tateishi J.(1993)
-
-
1
Y Yang
./.
2
c.538G>A
r.(?)
p.(Val180Ile)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
Unknown
g.4680404G>A
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, Mizusawa H1.(2014)
PRNP_000005
-
?
?
CJD
"
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)
-
-
1
Y Yang
./.
2
c.538G>A
r.(?)
p.(Val180Ile)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
Unknown
g.4680404G>A
Shi Q1, Shen XJ, Zhou W, Xiao K, Zhang XM, Zhang BY, Dong XP.(2014)
PRNP_000005
-
?
?
CJD
Shi Q1, Shen XJ, Zhou W, Xiao K, Zhang XM, Zhang BY, Dong XP.(2014)
-
-
1
Y Yang
./.
2
c.538G>A
r.(?)
p.(Val180Ile)
-
-
Unknown
g.4680404G>A
Peden AH et al. (2014)
PRNP_000005
-
?
?
CJD
Peden AH et al. (2014)
-
-
1
XY Liu
./.
2
c.538G>A
r.(?)
p.(Val180Ile)
-
-
Unknown
g.4680404G>A
Shi Q et al. (2014)
PRNP_000005
-
?
?
CJD
Shi Q et al. (2014)
Chinese
-
1
XY Liu
./.
2
c.538G>A
r.(?)
p.(Val180Ile)
-
-
Unknown
g.4680404G>A
Amano Y et al. (2015)
PRNP_000005
-
?
?
CJD
Amano Y et al. (2015)
-
-
1
XY Liu
./.
2
c.538G>A
r.(?)
p.(Val180Ile)
-
-
Unknown
g.4680404G>A
Koh K et al. (2015)
PRNP_000005
-
?
?
CJD
Koh K et al. (2015)
-
-
1
XY Liu
./.
2
c.538G>A
r.(?)
p.(Val180Ile)
-
-
Unknown
g.4680404G>A
Lee SM et al. (2016)
PRNP_000005
-
?
?
CJD
Lee SM et al. (2016)
-
-
1
XY Liu
./.
2
c.560A>G
r.(?)
p.(His187Arg)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
Unknown
g.4680426A>G
Bütefisch CM1, Gambetti P, Cervenakova L, Park KY, Hallett M, Goldfarb LG.(2000)
PRNP_000029
-
?
?
GSS
Bütefisch CM1, Gambetti P, Cervenakova L, Park KY, Hallett M, Goldfarb LG.(2000)
-
-
1
Y Yang
./.
2
c.563C>A
r.(?)
p.(Thr188Lys)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
Unknown
g.4680429C>A
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)
PRNP_000017
-
?
?
CJD
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)
-
-
1
Y Yang
./.
2
c.563C>A
r.(?)
p.(Thr188Lys)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
Unknown
g.4680429C>A
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)
PRNP_000017
-
?
?
CJD
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)
-
-
1
Y Yang
./.
2
c.563C>G
r.(?)
p.(Thr188Arg)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
Unknown
g.4680429C>G
Tartaglia MC1, Thai JN, See T, Kuo A, Harbaugh R, Raudabaugh B, Cali I, Sattavat M, Sanchez H, DeArmond SJ, Geschwind MD.(2010)
PRNP_000013
-
?
?
CJD
Tartaglia MC1, Thai JN, See T, Kuo A, Harbaugh R, Raudabaugh B, Cali I, Sattavat M, Sanchez H, DeArmond SJ, Geschwind MD.(2010)
-
-
1
Y Yang
./.
2
c.563C>G
r.(?)
p.(Thr188Arg)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
Unknown
g.4680429C>G
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)
PRNP_000013
-
?
?
CJD
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)
-
-
1
Y Yang
./.
2
c.578C>T
r.(?)
p.(Thr193Ile)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
VariO:0021 amino acid substitution
Unknown
g.4680444C>T
Kotta K1, Paspaltsis I, Bostantjopoulou S, Latsoudis H, Plaitakis A, Kazis D, Collinge J, Sklaviadis T.(2006)
PRNP_000015
-
?
?
CJD
Kotta K1, Paspaltsis I, Bostantjopoulou S, Latsoudis H, Plaitakis A, Kazis D, Collinge J, Sklaviadis T.(2006)
-
-
1
Y Yang
./.
2
c.586G>A
r.(?)
p.(Glu196Lys)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
Unknown
g.4680452G>A
Peoc'h K1, Manivet P, Beaudry P, Attane F, Besson G, Hannequin D, Delasnerie-Lauprêtre N, Laplanche JL.(2000)
PRNP_000008
-
?
?
CJD
Peoc'h K1, Manivet P, Beaudry P, Attane F, Besson G, Hannequin D, Delasnerie-Lauprêtre N, Laplanche JL.(2000)
-
-
1
Y Yang
./.
2
c.586G>A
r.(?)
p.(Glu196Lys)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
Unknown
g.4680452G>A
Schelzke G1, Eigenbrod S, Romero C, Varges D, Breithaupt M, Taratuto AL, Kretzschmar HA, Zerr I.(2011)
PRNP_000008
-
?
?
CJD
Schelzke G1, Eigenbrod S, Romero C, Varges D, Breithaupt M, Taratuto AL, Kretzschmar HA, Zerr I.(2011)
-
-
1
Y Yang
./.
2
c.586G>A
r.(?)
p.(Glu196Lys)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
Unknown
g.4680452G>A
Shi Q1, Chen C, Song XN, Gao C, Tian C, Zhou W, Song XH, Yao LS, Han J, Dong XP.(2011)
PRNP_000008
-
?
?
CJD
Shi Q1, Chen C, Song XN, Gao C, Tian C, Zhou W, Song XH, Yao LS, Han J, Dong XP.(2011)
Chinese
-
1
Y Yang
./.
2
c.586G>A
r.(?)
p.(Glu196Lys)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
Unknown
g.4680452G>A
Cheng CJ, Daggett V.(2014)
PRNP_000008
-
?
?
CJD
Cheng CJ, Daggett V.(2014)
-
-
1
Y Yang
./.
2
c.586G>A
r.(?)
p.(Glu196Lys)
-
-
Unknown
g.4680452G>A
Cheng CJ et al. (2014)
PRNP_000008
-
?
?
GSS
Cheng CJ et al. (2014)
-
-
1
XY Liu
./.
2
c.587A>C
r.(?)
p.(Glu196Ala)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
Unknown
g.4680453A>C
Zhang H1, Wang M2, Wu L3, Zhang H1, Jin T1, Wu J1, Sun L4.(2014)
PRNP_000021
-
?
?
CJD
Zhang H1, Wang M2, Wu L3, Zhang H1, Jin T1, Wu J1, Sun L4.(2014)
-
-
1
Y Yang
./.
2
c.587A>C
r.(?)
p.(Glu196Ala)
-
-
Unknown
g.4680453A>C
Shi Q et al. (2016)
PRNP_000021
-
?
?
CJD
Shi Q et al. (2016)
Chinese
-
1
XY Liu
./.
2
c.593T>C
r.(?)
p.(Phe198Ser)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
VariO:0021 amino acid substitution
Unknown
g.4680459T>C
Hsiao K1, Dlouhy SR, Farlow MR, Cass C, Da Costa M, Conneally PM, Hodes ME, Ghetti B, Prusiner SB.(1992)
PRNP_000025
-
?
?
GSS
Hsiao K1, Dlouhy SR, Farlow MR, Cass C, Da Costa M, Conneally PM, Hodes ME, Ghetti B, Prusiner SB.(1992)
-
-
1
Y Yang
./.
2
c.593T>C
r.(?)
p.(Phe198Ser)
-
-
Unknown
g.4680459T>C
Pirisinu L et al. (2016)
PRNP_000025
-
?
?
GSS
Pirisinu L et al. (2016)
-
-
1
XY Liu
./.
2
c.593T>C
r.(?)
p.(Phe198Ser)
-
-
Unknown
g.4680459T>C
Deters KD et al. (2016)
PRNP_000025
-
?
?
GSS
Deters KD et al. (2016)
-
-
1
XY Liu
./.
2
c.598G>A
r.(?)
p.(Glu200Lys)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
Unknown
g.4680464G>A
Goldgaber D1, Goldfarb LG, Brown P, Asher DM, Brown WT, Lin S, Teener JW, Feinstone SM, Rubenstein R, Kascsak RJ, et al.(1989)
PRNP_000003
-
?
?
CJD
Goldgaber D1, Goldfarb LG, Brown P, Asher DM, Brown WT, Lin S, Teener JW, Feinstone SM, Rubenstein R, Kascsak RJ, et al.(1989)
-
-
1
Y Yang
./.
2
c.598G>A
r.(?)
p.(Glu200Lys)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
Unknown
g.4680464G>A
Cohen OS1, Chapman J, Lee H, Nitsan Z, Appel S, Hoffman C, Rosenmann H, Korczyn AD, Prohovnik I.(2011)
PRNP_000003
-
?
?
CJD
Cohen OS1, Chapman J, Lee H, Nitsan Z, Appel S, Hoffman C, Rosenmann H, Korczyn AD, Prohovnik I.(2011)
-
-
1
Y Yang
./.
2
c.598G>A
r.(?)
p.(Glu200Lys)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
Unknown
g.4680464G>A
Breithaupt M1, Romero C, Kallenberg K, Begue C, Sanchez-Juan P, Eigenbrod S, Kretzschmar H, Schelzke G, Meichtry E, Taratuto A, Zerr I.(2013)
PRNP_000003
-
?
?
CJD
Breithaupt M1, Romero C, Kallenberg K, Begue C, Sanchez-Juan P, Eigenbrod S, Kretzschmar H, Schelzke G, Meichtry E, Taratuto A, Zerr I.(2013)
-
-
1
Y Yang
./.
2
c.598G>A
r.(?)
p.(Glu200Lys)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
Unknown
g.4680464G>A
Lee SM, Chung M, Hwang KJ, Ju YR, Hyeon JW, Park JS, Kim CK, Choi S, Lee J, Kim SY1.(2014)
PRNP_000003
-
?
?
CJD
Lee SM, Chung M, Hwang KJ, Ju YR, Hyeon JW, Park JS, Kim CK, Choi S, Lee J, Kim SY1.(2014)
-
-
1
Y Yang
./.
2
c.598G>A
r.(?)
p.(Glu200Lys)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
Unknown
g.4680464G>A
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)
PRNP_000003
-
?
?
CJD
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)
-
-
1
Y Yang
./.
2
c.598G>A
r.(?)
p.(Glu200Lys)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
Unknown
g.4680464G>A
Cohen OS1, Chapman J, Korczyn AD, Nitsan Z, Appel S, Hoffmann C, Rosenmann H, Kahana E, Lee H.(2014)
PRNP_000003
-
?
?
CJD
Cohen OS1, Chapman J, Korczyn AD, Nitsan Z, Appel S, Hoffmann C, Rosenmann H, Kahana E, Lee H.(2014)
-
-
1
Y Yang
./.
2
c.598G>A
r.(?)
p.(Glu200Lys)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
Unknown
g.4680464G>A
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)
PRNP_000003
-
?
?
CJD
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)
-
-
1
Y Yang
./.
2
c.598G>A
r.(?)
p.(Glu200Lys)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
Unknown
g.4680464G>A
Salazar R1, Cerghet M, Ramachandran V.(2014)
PRNP_000003
-
?
?
CJD
Salazar R1, Cerghet M, Ramachandran V.(2014)
-
-
1
Y Yang
./.
2
c.598G>A
r.(?)
p.(Glu200Lys)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
Unknown
g.4680464G>A
Chapman J1, Arlazoroff A, Goldfarb LG, Cervenakova L, Neufeld MY, Werber E, Herbert M, Brown P, Gajdusek DC, Korczyn AD.(1996)
PRNP_000003
-
?
?
FFI
Chapman J1, Arlazoroff A, Goldfarb LG, Cervenakova L, Neufeld MY, Werber E, Herbert M, Brown P, Gajdusek DC, Korczyn AD.(1996)
-
-
1
Y Yang
./.
2
c.598G>A
r.(?)
p.(Glu200Lys)
-
-
Unknown
g.4680464G>A
Cohen OS et al. (2016)
PRNP_000003
-
?
?
CJD
Cohen OS et al. (2016)
-
-
1
XY Liu
./.
2
c.605A>G
r.(?)
p.(Asp202Gly)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
Unknown
g.4680471A>G
Heinemann U1, Krasnianski A, Meissner B, Grasbon-Frodl EM, Kretzschmar HA, Zerr I.(2008)
PRNP_000016
-
?
?
CJD
Heinemann U1, Krasnianski A, Meissner B, Grasbon-Frodl EM, Kretzschmar HA, Zerr I.(2008)
-
-
1
Y Yang
./.
2
c.607G>A
r.(?)
p.(Val203Ile)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
Unknown
g.4680473G>A
Peoc'h K1, Manivet P, Beaudry P, Attane F, Besson G, Hannequin D, Delasnerie-Lauprêtre N, Laplanche JL.(2000)
PRNP_000009
-
?
?
CJD
Peoc'h K1, Manivet P, Beaudry P, Attane F, Besson G, Hannequin D, Delasnerie-Lauprêtre N, Laplanche JL.(2000)
-
-
1
Y Yang
./.
2
c.607G>A
r.(?)
p.(Val203Ile)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
Unknown
g.4680473G>A
Shi Q1, Chen C, Wang XJ, Zhou W, Wang JC, Zhang BY, Gao C, Gao C, Han J, Dong XP.(2013)
PRNP_000009
-
?
?
CJD
Shi Q1, Chen C, Wang XJ, Zhou W, Wang JC, Zhang BY, Gao C, Gao C, Han J, Dong XP.(2013)
-
-
1
Y Yang
./.
2
c.607G>A
r.(?)
p.(Val203Ile)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
Unknown
g.4680473G>A
Komatsu J1, Sakai K, Hamaguchi T, Sugiyama Y, Iwasa K, Yamada M.(2014)
PRNP_000009
-
?
?
CJD
Komatsu J1, Sakai K, Hamaguchi T, Sugiyama Y, Iwasa K, Yamada M.(2014)
-
-
1
Y Yang
./.
2
c.607G>A
r.(?)
p.(Val203Ile)
-
-
Unknown
g.4680473G>A
Komatsu J et al. (2014)
PRNP_000009
-
?
?
CJD
Komatsu J et al. (2014)
-
-
1
XY Liu
./.
2
c.607G>A
r.(?)
p.(Val203Ile)
-
-
Unknown
g.4680473G>A
Cistaro A et al. (2017)
PRNP_000009
-
?
?
CJD
Cistaro A et al. (2017)
-
-
1
XY Liu
./.
2
c.623G>A
r.(?)
p.(Arg208His)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
Unknown
g.4680489G>A
Mastrianni JA1, Iannicola C, Myers RM, DeArmond S, Prusiner SB.(1996)
PRNP_000007
-
?
?
CJD
Mastrianni JA1, Iannicola C, Myers RM, DeArmond S, Prusiner SB.(1996)
-
-
1
Y Yang
./.
2
c.623G>A
r.(?)
p.(Arg208His)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
Unknown
g.4680489G>A
Chen C1, Shi Q, Tian C, Li Q, Zhou W, Gao C, Han J, Dong XP.(2011)
PRNP_000007
-
?
?
CJD
Chen C1, Shi Q, Tian C, Li Q, Zhou W, Gao C, Han J, Dong XP.(2011)
Chinese
-
1
Y Yang
./.
2
c.623G>A
r.(?)
p.(Arg208His)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
Unknown
g.4680489G>A
Matěj R1, Kovacs GG, Johanidesová S, Keller J, Matěj?ková M, Nováková J, Sigut V, Keller O, Rusina R.(2012)
PRNP_000007
-
?
?
CJD
Matěj R1, Kovacs GG, Johanidesová S, Keller J, Matěj?ková M, Nováková J, Sigut V, Keller O, Rusina R.(2012)
-
-
1
Y Yang
./.
2
c.628G>A
r.(?)
p.(Val210Ile)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
Unknown
g.4680494G>A
Pocchiari M1, Salvatore M, Cutruzzolá F, Genuardi M, Allocatelli CT, Masullo C, Macchi G, Alemá G, Galgani S, Xi YG, et al.(1993)
PRNP_000004
-
?
?
CJD
Pocchiari M1, Salvatore M, Cutruzzolá F, Genuardi M, Allocatelli CT, Masullo C, Macchi G, Alemá G, Galgani S, Xi YG, et al.(1993)
-
-
1
Y Yang
./.
2
c.628G>A
r.(?)
p.(Val210Ile)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
Unknown
g.4680494G>A
Biljan I1, Ilc G, Giachin G, Raspadori A, Zhukov I, Plavec J, Legname G.(2011)
PRNP_000004
-
?
?
CJD
Biljan I1, Ilc G, Giachin G, Raspadori A, Zhukov I, Plavec J, Legname G.(2011)
-
-
1
Y Yang
./.
2
c.628G>A
r.(?)
p.(Val210Ile)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
Unknown
g.4680494G>A
Breithaupt M1, Romero C, Kallenberg K, Begue C, Sanchez-Juan P, Eigenbrod S, Kretzschmar H, Schelzke G, Meichtry E, Taratuto A, Zerr I.(2013)
PRNP_000004
-
?
?
CJD
Breithaupt M1, Romero C, Kallenberg K, Begue C, Sanchez-Juan P, Eigenbrod S, Kretzschmar H, Schelzke G, Meichtry E, Taratuto A, Zerr I.(2013)
-
-
1
Y Yang
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