NDDVD - Neurodegenerative Diseases Variation Database
MAPT (microtubule-associated protein tau)
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Curator:
Y Yang
View all genes
View MAPT gene homepage
View graphs about the MAPT gene database
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View all transcripts
View all transcripts of gene MAPT
Create a new transcript information entry
View all variants
View all variants affecting transcripts
View unique variants in gene MAPT
View all variants in gene MAPT
Full data view for gene MAPT
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View active genomic custom columns
Enable more genomic custom columns
View all individuals
View all individuals with variants in gene MAPT
Create a new data submission
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View all diseases
View all diseases associated with gene MAPT
Create a new disease information entry
View available phenotype columns
View all screenings
View all screenings for gene MAPT
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View active custom columns
Enable more custom columns
Submit new data
All screenings for gene MAPT
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
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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.
111 entries on 2 pages. Showing entries 1 - 100.
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Legend
How to query
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Screening ID
Individual ID
Template
Technique
Variants found
Owner
0000001311
00001311
?
?
1
Y Yang
0000001312
00001312
?
?
1
Y Yang
0000001313
00001313
?
?
1
Y Yang
0000001314
00001314
?
?
1
Y Yang
0000001315
00001315
?
?
1
Y Yang
0000001316
00001316
?
?
1
Y Yang
0000001317
00001317
?
?
1
Y Yang
0000001318
00001318
?
?
1
Y Yang
0000001319
00001319
?
?
1
Y Yang
0000001320
00001320
?
?
1
Y Yang
0000001321
00001321
?
?
1
Y Yang
0000001322
00001322
?
?
1
Y Yang
0000001323
00001323
?
?
1
Y Yang
0000001324
00001324
?
?
1
Y Yang
0000001325
00001325
?
?
1
Y Yang
0000001326
00001326
?
?
1
Y Yang
0000001327
00001327
?
?
1
Y Yang
0000001328
00001328
?
?
1
Y Yang
0000001329
00001329
?
?
1
Y Yang
0000001330
00001330
?
?
1
Y Yang
0000001331
00001331
?
?
1
Y Yang
0000001332
00001332
?
?
1
Y Yang
0000001333
00001333
?
?
1
Y Yang
0000001334
00001334
?
?
1
Y Yang
0000001335
00001335
?
?
1
Y Yang
0000001336
00001336
?
?
1
Y Yang
0000001337
00001337
?
?
1
Y Yang
0000001338
00001338
?
?
1
Y Yang
0000001339
00001339
?
?
1
Y Yang
0000001340
00001340
?
?
1
Y Yang
0000001341
00001341
?
?
1
Y Yang
0000001342
00001342
?
?
1
Y Yang
0000001343
00001343
?
?
1
Y Yang
0000001344
00001344
?
?
1
Y Yang
0000001345
00001345
?
?
1
Y Yang
0000001346
00001346
?
?
1
Y Yang
0000001347
00001347
?
?
1
Y Yang
0000001458
00001458
?
?
1
Y Yang
0000001459
00001459
?
?
1
Y Yang
0000001460
00001460
?
?
1
Y Yang
0000001461
00001461
?
?
1
Y Yang
0000001471
00001471
?
?
1
Y Yang
0000003806
00003806
?
?
1
Y Yang
0000003932
00003932
?
?
1
Y Yang
0000003933
00003933
?
?
1
Y Yang
0000003934
00003934
?
?
1
Y Yang
0000003935
00003935
?
?
1
Y Yang
0000003936
00003936
?
?
1
Y Yang
0000003937
00003937
?
?
1
Y Yang
0000003938
00003938
?
?
1
Y Yang
0000003939
00003939
?
?
1
Y Yang
0000003945
00003945
?
?
1
Y Yang
0000005105
00005102
?
?
1
XY Liu
0000005162
00005159
?
?
1
XY Liu
0000005171
00005168
?
?
1
XY Liu
0000005172
00005169
?
?
1
XY Liu
0000005567
00005555
?
?
1
XY Liu
0000006012
00005993
?
?
1
XY Liu
0000006013
00005994
?
?
1
XY Liu
0000006014
00005995
?
?
1
XY Liu
0000006021
00006001
?
?
1
XY Liu
0000006022
00006002
?
?
1
XY Liu
0000006034
00006014
?
?
1
XY Liu
0000006036
00006015
?
?
1
XY Liu
0000006037
00006016
?
?
1
XY Liu
0000006038
00006017
?
?
1
XY Liu
0000006039
00006018
?
?
1
XY Liu
0000006040
00006019
?
?
1
XY Liu
0000006053
00006032
?
?
1
XY Liu
0000006059
00006038
?
?
1
XY Liu
0000006069
00006047
?
?
1
XY Liu
0000006072
00006050
?
?
1
XY Liu
0000006073
00006051
?
?
1
XY Liu
0000006075
00006053
?
?
1
XY Liu
0000006081
00006059
?
?
1
XY Liu
0000006083
00006061
?
?
1
XY Liu
0000006093
00006071
?
?
1
XY Liu
0000006096
00006074
?
?
1
XY Liu
0000006099
00006077
?
?
1
XY Liu
0000006101
00006079
?
?
1
XY Liu
0000006102
00006080
?
?
1
XY Liu
0000006109
00006087
?
?
1
XY Liu
0000006113
00006091
?
?
1
XY Liu
0000006114
00006092
?
?
1
XY Liu
0000006115
00006093
?
?
1
XY Liu
0000006118
00006096
?
?
1
XY Liu
0000006119
00006097
?
?
1
XY Liu
0000006121
00006099
?
?
1
XY Liu
0000006122
00006100
?
?
1
XY Liu
0000006123
00006101
?
?
1
XY Liu
0000006124
00006102
?
?
1
XY Liu
0000006125
00006103
?
?
1
XY Liu
0000006127
00006105
?
?
1
XY Liu
0000006128
00006106
?
?
1
XY Liu
0000006131
00006109
?
?
1
XY Liu
0000006132
00006110
?
?
1
XY Liu
0000006133
00006111
?
?
1
XY Liu
0000006134
00006112
?
?
1
XY Liu
0000006135
00006113
?
?
1
XY Liu
0000006136
00006114
?
?
1
XY Liu
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