NDDVD - Neurodegenerative Diseases Variation Database
PPT1 (palmitoyl-protein thioesterase 1)
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Curator:
Y Yang
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View all diseases associated with gene PPT1
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All screenings for gene PPT1
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.
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
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.
67 entries on 1 page. Showing entries 1 - 67.
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Legend
How to query
Screening ID
Individual ID
Template
Technique
Variants found
Owner
0000002575
00002575
?
?
1
Y Yang
0000002576
00002576
?
?
1
Y Yang
0000002577
00002577
?
?
1
Y Yang
0000002578
00002578
?
?
1
Y Yang
0000002579
00002579
?
?
1
Y Yang
0000002580
00002580
?
?
1
Y Yang
0000002581
00002581
?
?
1
Y Yang
0000002582
00002582
?
?
1
Y Yang
0000002583
00002583
?
?
1
Y Yang
0000002584
00002584
?
?
1
Y Yang
0000002585
00002585
?
?
1
Y Yang
0000002586
00002586
?
?
1
Y Yang
0000002587
00002587
?
?
1
Y Yang
0000002588
00002588
?
?
1
Y Yang
0000002589
00002589
?
?
1
Y Yang
0000002590
00002590
?
?
1
Y Yang
0000002591
00002591
?
?
1
Y Yang
0000002592
00002592
?
?
1
Y Yang
0000002593
00002593
?
?
1
Y Yang
0000002594
00002594
?
?
1
Y Yang
0000002595
00002595
?
?
1
Y Yang
0000002596
00002596
?
?
1
Y Yang
0000002597
00002597
?
?
1
Y Yang
0000002598
00002598
?
?
1
Y Yang
0000002599
00002599
?
?
1
Y Yang
0000002600
00002600
?
?
1
Y Yang
0000002601
00002601
?
?
1
Y Yang
0000002602
00002602
?
?
1
Y Yang
0000002603
00002603
?
?
1
Y Yang
0000002604
00002604
?
?
1
Y Yang
0000002605
00002605
?
?
1
Y Yang
0000002606
00002606
?
?
1
Y Yang
0000002607
00002607
?
?
1
Y Yang
0000002608
00002608
?
?
1
Y Yang
0000002609
00002609
?
?
1
Y Yang
0000002610
00002610
?
?
1
Y Yang
0000002611
00002611
?
?
1
Y Yang
0000002612
00002612
?
?
1
Y Yang
0000002613
00002613
?
?
1
Y Yang
0000002614
00002614
?
?
1
Y Yang
0000002615
00002615
?
?
1
Y Yang
0000002616
00002616
?
?
1
Y Yang
0000002617
00002617
?
?
1
Y Yang
0000002618
00002618
?
?
1
Y Yang
0000002619
00002619
?
?
1
Y Yang
0000002620
00002620
?
?
1
Y Yang
0000002621
00002621
?
?
1
Y Yang
0000002622
00002622
?
?
1
Y Yang
0000002623
00002623
?
?
1
Y Yang
0000002624
00002624
?
?
1
Y Yang
0000002625
00002625
?
?
1
Y Yang
0000002626
00002626
?
?
1
Y Yang
0000002915
00002915
?
?
1
Y Yang
0000002916
00002916
?
?
1
Y Yang
0000002917
00002917
?
?
1
Y Yang
0000002918
00002918
?
?
1
Y Yang
0000002919
00002919
?
?
1
Y Yang
0000002920
00002920
?
?
1
Y Yang
0000002921
00002921
?
?
1
Y Yang
0000002922
00002922
?
?
1
Y Yang
0000002923
00002923
?
?
1
Y Yang
0000002924
00002924
?
?
1
Y Yang
0000002925
00002925
?
?
1
Y Yang
0000002926
00002926
?
?
1
Y Yang
0000002927
00002927
?
?
1
Y Yang
0000002928
00002928
?
?
1
Y Yang
0000005728
00005712
?
?
1
XY Liu
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