NDDVD - Neurodegenerative Diseases Variation Database
PRNP (prion protein)
LOVD v.3.0 Build 29 [
Current LOVD status
]
Register as submitter
|
Log in
Curator:
Y Yang
View all genes
View PRNP gene homepage
View graphs about the PRNP gene database
Create a new gene entry
View all transcripts
View all transcripts of gene PRNP
Create a new transcript information entry
View all variants
View all variants affecting transcripts
View unique variants in gene PRNP
View all variants in gene PRNP
Full data view for gene PRNP
Create a new data submission
View active genomic custom columns
Enable more genomic custom columns
View all individuals
View all individuals with variants in gene PRNP
Create a new data submission
View active custom columns
Enable more custom columns
View all diseases
View all diseases associated with gene PRNP
Create a new disease information entry
View available phenotype columns
View all screenings
View all screenings for gene PRNP
Create a new data submission
View active custom columns
Enable more custom columns
Submit new data
Unique variants in the PRNP gene
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.
Reported
: The number of times this variant has been reported in the database.
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
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).
How to query this table
All list views have search fields which can be used to search data. You can search for a complete word or you can search for a part of a search term. If you enclose two or more words in double quotes, LOVD will search for the combination of those words only exactly in the order you specify. Note that search terms are case-insensitive and that wildcards such as * are treated as normal text! For all options, like "and", "or", and "not" searches, or searching for prefixes or suffixes, see the table below.
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.
43 entries on 1 page. Showing entries 1 - 43.
10 per page
25 per page
50 per page
100 per page
250 per page
500 per page
1000 per page
Legend
How to query
Effect
Reported
Exon
DNA change (cDNA)
RNA change
Protein
Variant/VariO/DNA
Variant/VariO/protein
DNA change (genomic) (hg19)
Reference
DB-ID
Frequency
Owner
./.
1
2
c.116C>T
r.(?)
p.(Pro39Leu)
-
-
g.4679982C>T
Oldoni E et al. (2016)
PRNP_000043
-
XY Liu
./.
1
2
c.142C>A
r.(?)
p.(Arg48Ser)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
g.4680008C>A
Jones M1, Odunsi S1, du Plessis D1, Vincent A1, Bishop M1, Head MW1, Ironside JW1, Gow D2.(2014)
PRNP_000036
-
Y Yang
./.
1
2
c.160_183del24
r.(?)
p.(Pro84_Gln91del)
VariO:0141 DNA deletion
VariO:0016 sequence retaining amino acid deletion
g.4680026_4680049del24
1 more item
PRNP_000037
-
Y Yang
./.
1
2
c.184_207del24
r.(?)
p.(Pro84_Gln91del)
VariO:0141 DNA deletion
VariO:0016 sequence retaining amino acid deletion
g.4680050_4680073del24
1 more item
PRNP_000038
-
Y Yang
./.
1
2
c.250C>T
r.(?)
p.(Pro84Ser)
-
-
g.4680116C>T
Jones M et al. (2014)
PRNP_000042
-
XY Liu
./.
9
2
c.305C>T
r.(?)
p.(Pro102Leu)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
VariO:0021 amino acid substitution
g.4680171C>T
Riudavets MA et al. (2014)
,
Ando R et al. (2016)
,
Pirisinu L et al. (2016)
,
Deters KD et al. (2016)
,
5 more items
PRNP_000024
XYZ19940216
XY Liu
,
Y Yang
./.
2
2
c.313C>A
r.(?)
p.(Pro105Thr)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
g.4680179C>A
Polymenidou M1, Prokop S, Jung HH, Hewer E, Peretz D, Moos R, Tolnay M, Aguzzi A.(2011)
PRNP_000019
-
Y Yang
./.
1
2
c.313C>T
r.(?)
p.(Pro105Ser)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
VariO:0021 amino acid substitution
g.4680179C>T
Tunnell E1, Wollman R, Mallik S, Cortes CJ, Dearmond SJ, Mastrianni JA.(2008)
PRNP_000031
-
Y Yang
./.
2
2
c.314C>T
r.(?)
p.(Pro105Leu)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
VariO:0021 amino acid substitution
g.4680180C>T
Mano KK et al. (2016)
,
1 more item
PRNP_000027
-
XY Liu
,
Y Yang
./.
2
2
c.341G>T
r.(?)
p.(Gly114Val)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
g.4680207G>T
Tian C1, Liu D, Chen C, Xu Y, Gong HS, Chen C, Shi Q, Zhang BY, Han J, Dong XP.(2013)
,
1 more item
PRNP_000018
-
Y Yang
./.
4
2
c.350C>T
r.(?)
p.(Ala117Val)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
VariO:0021 amino acid substitution
g.4680216C>T
Pirisinu L et al. (2016)
,
Doh-ura K1, Tateishi J, Sasaki H, Kitamoto T, Sakaki Y.(1989)
,
2 more items
PRNP_000011
-
XY Liu
,
Y Yang
./.
1
2
c.379G>A
r.(?)
p.(Gly127Ser)
-
-
g.4680245G>A
Ch'ng GS et al.(2015)
PRNP_000041
-
XY Liu
./.
3
2
c.385A>G
r.(?)
p.(Met129Val)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
g.4680251A>G
Cervenáková L1, Goldfarb LG, Garruto R, Lee HS, Gajdusek DC, Brown P.(1998)
,
2 more items
PRNP_000001
-
Y Yang
./.
2
2
c.392G>T
r.(?)
p.(Gly131Val)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
g.4680258G>T
2 more items
PRNP_000028
-
Y Yang
./.
2
2
c.398C>T
r.(?)
p.(Ala133Val)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
VariO:0021 amino acid substitution
g.4680264C>T
1 more item
PRNP_000030
-
Y Yang
./.
2
2
c.435T>A
r.(?)
p.(Tyr145*)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0015 protein truncation
g.4680301T>A
Zhang W et al. (2016)
,
Kitamoto T1, Iizuka R, Tateishi J.(1993)
PRNP_000032
-
XY Liu
,
Y Yang
./.
1
2
c.443G>A
r.(?)
p.(Arg148His)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
g.4680309G>A
Krebs B1, Lederer RM, Windl O, Grasbon-Frodl EM, Zerr I, Kretzschmar HA.(2005)
PRNP_000014
-
Y Yang
./.
1
2
c.478C>T
r.(?)
p.(Gln160*)
-
-
g.4680344C>T
Zhang W et al. (2016)
PRNP_000040
-
XY Liu
./.
1
2
c.489C>A
r.(?)
p.(Tyr163*)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0015 protein truncation
g.4680355C>A
Themistocleous AC1, Kennett R, Husain M, Palace J, Mead S, Bennett DL.(2014)
PRNP_000039
-
Y Yang
./.
1
2
c.512A>G
r.(?)
p.(Asn171Ser)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
g.4680378A>G
Appleby BS1, Appleby KK, Hall RC, Wallin MT.(2010)
PRNP_000012
-
Y Yang
./.
2
2
c.527T>G
r.(?)
p.(Val176Gly)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
g.4680393T>G
1 more item
PRNP_000022
-
Y Yang
./.
13
2
c.532G>A
r.(?)
p.(Asp178Asn)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
g.4680398G>A
Kretzschmar HA1, Neumann M, Stavrou D.(1995)
,
Zhang W et al. (2016)
,
Chen S et al. (2015)
,
8 more items
PRNP_000002
-
Y Yang
,
XY Liu
./.
8
2
c.538G>A
r.(?)
p.(Val180Ile)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
g.4680404G>A
Shi Q1, Shen XJ, Zhou W, Xiao K, Zhang XM, Zhang BY, Dong XP.(2014)
,
Peden AH et al. (2014)
,
6 more items
PRNP_000005
-
Y Yang
,
XY Liu
./.
1
2
c.560A>G
r.(?)
p.(His187Arg)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
g.4680426A>G
Bütefisch CM1, Gambetti P, Cervenakova L, Park KY, Hallett M, Goldfarb LG.(2000)
PRNP_000029
-
Y Yang
./.
2
2
c.563C>A
r.(?)
p.(Thr188Lys)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
g.4680429C>A
2 more items
PRNP_000017
-
Y Yang
./.
2
2
c.563C>G
r.(?)
p.(Thr188Arg)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
g.4680429C>G
2 more items
PRNP_000013
-
Y Yang
./.
1
2
c.578C>T
r.(?)
p.(Thr193Ile)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
VariO:0021 amino acid substitution
g.4680444C>T
1 more item
PRNP_000015
-
Y Yang
./.
5
2
c.586G>A
r.(?)
p.(Glu196Lys)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
g.4680452G>A
Cheng CJ, Daggett V.(2014)
,
Cheng CJ et al. (2014)
,
3 more items
PRNP_000008
-
Y Yang
,
XY Liu
./.
2
2
c.587A>C
r.(?)
p.(Glu196Ala)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
g.4680453A>C
Zhang H1, Wang M2, Wu L3, Zhang H1, Jin T1, Wu J1, Sun L4.(2014)
,
Shi Q et al. (2016)
PRNP_000021
-
Y Yang
,
XY Liu
./.
3
2
c.593T>C
r.(?)
p.(Phe198Ser)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
VariO:0021 amino acid substitution
g.4680459T>C
Pirisinu L et al. (2016)
,
Deters KD et al. (2016)
,
1 more item
PRNP_000025
-
XY Liu
,
Y Yang
./.
10
2
c.598G>A
r.(?)
p.(Glu200Lys)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
g.4680464G>A
Lee SM, Chung M, Hwang KJ, Ju YR, Hyeon JW, Park JS, Kim CK, Choi S, Lee J, Kim SY1.(2014)
,
9 more items
PRNP_000003
-
Y Yang
,
XY Liu
./.
1
2
c.605A>G
r.(?)
p.(Asp202Gly)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
g.4680471A>G
Heinemann U1, Krasnianski A, Meissner B, Grasbon-Frodl EM, Kretzschmar HA, Zerr I.(2008)
PRNP_000016
-
Y Yang
./.
5
2
c.607G>A
r.(?)
p.(Val203Ile)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
g.4680473G>A
Shi Q1, Chen C, Wang XJ, Zhou W, Wang JC, Zhang BY, Gao C, Gao C, Han J, Dong XP.(2013)
,
4 more items
PRNP_000009
-
Y Yang
,
XY Liu
./.
3
2
c.623G>A
r.(?)
p.(Arg208His)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
g.4680489G>A
Mastrianni JA1, Iannicola C, Myers RM, DeArmond S, Prusiner SB.(1996)
,
2 more items
PRNP_000007
-
Y Yang
./.
4
2
c.628G>A
r.(?)
p.(Val210Ile)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
g.4680494G>A
Imbriani P et al. (2016)
,
3 more items
PRNP_000004
-
XY Liu
,
Y Yang
./.
1
2
c.631G>C
r.(?)
p.(Glu211Gln)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
g.4680497G>C
1 more item
PRNP_000010
-
Y Yang
./.
1
2
c.635A>C
r.(?)
p.(Gln212Pro)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
g.4680501A>C
Collins S1, McLean CA, Masters CL.(2001)
PRNP_000035
-
Y Yang
./.
2
2
c.643A>G
r.(?)
p.(Ile215Val)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
g.4680509A>G
Zhang W et al. (2016)
,
1 more item
PRNP_000020
-
XY Liu
,
Y Yang
./.
1
2
c.650A>G
r.(?)
p.(Gln217Arg)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
g.4680516A>G
1 more item
PRNP_000026
-
Y Yang
./.
4
2
c.652T>A
r.(?)
p.(Tyr218Asn)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
g.4680518T>A
Cheng CJ, Daggett V.(2014)
,
Cheng CJ et al. (2014)
,
Matamoros-Angles A et al. (2017)
,
1 more item
PRNP_000023
-
Y Yang
,
XY Liu
./.
1
2
c.655G>A
r.(?)
p.(Glu219Lys)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
g.4680521G>A
Tanaka Y1, Minematsu K, Moriyasu H, Yamaguchi T, Yutani C, Kitamoto T, Furukawa H.(1997)
PRNP_000033
-
Y Yang
./.
1
2
c.695T>C
r.(?)
p.(Met232Thr)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
VariO:0021 amino acid substitution
g.4680561T>C
Bratosiewicz J1, Barcikowska M, Cervenakowa L, Brown P, Gajdusek DC, Liberski PP.(2000)
PRNP_000034
-
Y Yang
./.
8
2
c.695T>G
r.(?)
p.(Met232Arg)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
g.4680561T>G
Iwasaki Y1, Yokoi F, Tatsumi S, Mimuro M, Iwai K, Kitamoto T, Yoshida M.(2013)
,
Lim JG et al. (2015)
,
6 more items
PRNP_000006
-
Y Yang
,
XY Liu
10 per page
25 per page
50 per page
100 per page
250 per page
500 per page
1000 per page
Legend
How to query
Powered by
LOVD v.3.0
Build 29
LOVD software ©2004-2023
Leiden University Medical Center