NDDVD - Neurodegenerative Diseases Variation Database
MAPT (microtubule-associated protein tau)
LOVD v.3.0 Build 29 [
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Curator:
Y Yang
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Full data view for gene MAPT
The variants shown are described using the
NM_005910.5
NM_001123066.3
NM_016835.4
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
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.
78 entries on 1 page. Showing entries 1 - 78.
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Legend
How to query
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
./.
10
c.?
r.exon 10 skipping
P.?
-
-
Unknown
G.?
Luo Y et al. (2014)
GRN_000076
-
?
?
FTLD
Luo Y et al. (2014)
-
-
1
XY Liu
./.
2
c.14G>A
r.(?)
p.(Arg5His)
-
-
Unknown
g.44039717G>A
Hayashi S1, Toyoshima Y, Hasegawa M, Umeda Y, Wakabayashi K, Tokiguchi S, Iwatsubo T, Takahashi H.(2002)
MAPT_000015
-
?
?
FTLD
Hayashi S1, Toyoshima Y, Hasegawa M, Umeda Y, Wakabayashi K, Tokiguchi S, Iwatsubo T, Takahashi H.(2002)
-
-
1
Y Yang
./.
3
c.163G>C
r.(?)
p.(Gly55Arg)
-
-
Unknown
g.44049254G>C
Iyer A et al. (2013)
MAPT_000058
-
?
?
FTLD
Iyer A et al. (2013)
-
-
1
XY Liu
./.
4
c.224T>C
r.(?)
p.(Val75Ala)
-
-
Unknown
g.44051754T>C
Gallo M1, Tomaino C, Puccio G, Frangipane F, Curcio SA, Bernardi L, Geracitano S, Anfossi M, Mirabelli M, Colao R, Vasso F, Smirne N, Maletta RG, Bruni AC.(2010)
MAPT_000022
-
?
?
FTLD
Gallo M1, Tomaino C, Puccio G, Frangipane F, Curcio SA, Bernardi L, Geracitano S, Anfossi M, Mirabelli M, Colao R, Vasso F, Smirne N, Maletta RG, Bruni AC.(2010)
-
-
1
Y Yang
./.
7
c.454G>A
r.(?)
p.(Ala152Thr)
-
-
Unknown
g.44068850G>A
Kovacs GG et al.(2011)
MAPT_000053
-
?
?
FTLD
Kovacs GG et al.(2011)
-
A 63-year-old man
1
XY Liu
./.
7
c.454G>A
r.(?)
p.(Ala152Thr)
-
-
Unknown
g.44068850G>A
Coppola G et al. (2012)
MAPT_000053
-
?
?
AD, FTLD
Coppola G et al. (2012)
-
increasing the risk
1
XY Liu
./.
7
c.454G>A
r.(?)
p.(Ala152Thr)
-
-
Unknown
g.44068850G>A
Lee SE et aL. (2013)
MAPT_000053
-
?
?
AD, FTLD
Lee SE et aL. (2013)
-
-
1
XY Liu
./.
7
c.454G>A
r.(?)
p.(Ala152Thr)
-
-
Unknown
g.44068850G>A
Pastor P et al. (2016)
MAPT_000053
-
?
?
FTLD
Pastor P et al. (2016)
-
-
1
XY Liu
./.
7
c.454G>A
r.(?)
p.(Ala152Thr)
-
-
Unknown
g.44068850G>A
Pir GJ et al. (2016)
MAPT_000053
-
?
?
FTLD, PSP
Pir GJ et al. (2016)
-
a risk factor
1
XY Liu
./.
8
c.770A>C
r.(?)
p.(Lys257Thr)
-
-
Unknown
g.44073978A>C
Rizzini C1, Goedert M, Hodges JR, Smith MJ, Jakes R, Hills R, Xuereb JH, Crowther RA, Spillantini MG.(2000)
MAPT_000018
-
?
?
FTLD
Rizzini C1, Goedert M, Hodges JR, Smith MJ, Jakes R, Hills R, Xuereb JH, Crowther RA, Spillantini MG.(2000)
-
-
1
Y Yang
./.
8
c.778A>G
r.(?)
p.(Ile260Val)
-
-
Unknown
g.44073986A>G
Grover A et al. (2003)
MAPT_000064
-
?
?
FTLD
Grover A et al. (2003)
-
-
1
XY Liu
./.
8
c.796C>G
r.(?)
p.(Leu266Val)
-
-
Unknown
g.44074004C>G
Kobayashi T1, Ota S, Tanaka K, Ito Y, Hasegawa M, Umeda Y, Motoi Y, Takanashi M, Yasuhara M, Anno M, Mizuno Y, Mori H.(2003)
MAPT_000016
-
?
?
FTLD
Kobayashi T1, Ota S, Tanaka K, Ito Y, Hasegawa M, Umeda Y, Motoi Y, Takanashi M, Yasuhara M, Anno M, Mizuno Y, Mori H.(2003)
-
-
1
Y Yang
./.
8
c.815G>T
r.(?)
p.(Gly272Val)
-
-
Unknown
g.44074023G>T
Heutink P1, Stevens M, Rizzu P, Bakker E, Kros JM, Tibben A, Niermeijer MF, van Duijn CM, Oostra BA, van Swieten JC.(1997)
MAPT_000002
-
?
?
FTLD
Heutink P1, Stevens M, Rizzu P, Bakker E, Kros JM, Tibben A, Niermeijer MF, van Duijn CM, Oostra BA, van Swieten JC.(1997)
-
-
1
Y Yang
./.
8
c.817G>C
r.(?)
p.(Gly273Arg)
-
-
Unknown
g.44074025G>C
van der Zee J et al. (2006)
MAPT_000065
-
?
?
FTLD
van der Zee J et al. (2006)
-
-
1
XY Liu
./.
9
c.837T>A
r.(?)
p.(Asn279Lys)
-
-
Unknown
g.44087690T>A
Clark LN1, Poorkaj P, Wszolek Z, Geschwind DH, Nasreddine ZS, Miller B, Li D, Payami H, Awert F, Markopoulou K, Andreadis A, D'Souza I, Lee VM, Reed L, Trojanowski JQ, Zhukareva V, Bird T, Schellenberg G, Wilhelmsen KC.(1998)
MAPT_000010
-
?
?
FTLD
"
Clark LN1, Poorkaj P, Wszolek Z, Geschwind DH, Nasreddine ZS, Miller B, Li D, Payami H, Awert F, Markopoulou K, Andreadis A, D'Souza I, Lee VM, Reed L, Trojanowski JQ, Bird T.(1998)
-
-
1
Y Yang
./.
9
c.837T>A
r.(?)
p.(Asn279Lys)
-
-
Unknown
g.44087690T>A
Whitwell JL et al. (2011)
MAPT_000010
-
?
?
FTLD
Whitwell JL et al. (2011)
-
-
1
XY Liu
./.
9
c.837T>A
r.(?)
p.(Asn279Lys)
-
-
Unknown
g.44087690T>A
Wren MC et al. (2015)
,
dbSNP
MAPT_000010
-
?
?
FTLD
Wren MC et al. (2015)
-
-
1
XY Liu
./.
9
c.837T>A
r.(?)
p.(Asn279Lys)
-
-
Unknown
g.44087690T>A
Takada LT et al. (2016)
MAPT_000010
-
?
?
FTLD
Takada LT et al. (2016)
-
-
1
XY Liu
./.
9
c.837T>A
r.(?)
p.(Asn279Lys)
-
-
Unknown
g.44087690T>A
Hallmann AL et al. (2017)
MAPT_000010
-
?
?
FTLD
Hallmann AL et al. (2017)
-
-
1
XY Liu
./.
10
c.838_840delAAG
r.(?)
p.(Lys280del)
-
-
Unknown
g.44087691_44087693delAAG
Rizzu P et al. (1999)
MAPT_000074
-
?
?
FTLD
Rizzu P et al. (1999)
-
-
1
XY Liu
./.
9
c.851T>G
r.(?)
p.(Leu284Arg)
-
-
Unknown
g.44087704T>G
Rohrer JD1, Paviour D, Vandrovcova J, Hodges J, de Silva R, Rossor MN.(2011)
MAPT_000044
-
?
?
PSP
Rohrer JD1, Paviour D, Vandrovcova J, Hodges J, de Silva R, Rossor MN.(2011)
-
-
1
Y Yang
./.
9
c.886A>C
r.(?)
p.(Asn296His)
-
-
Unknown
g.44087739A>C
Iseki E1, Matsumura T, Marui W, Hino H, Odawara T, Sugiyama N, Suzuki K, Sawada H, Arai T, Kosaka K.(2001)
MAPT_000019
-
?
?
FTLD
Iseki E1, Matsumura T, Marui W, Hino H, Odawara T, Sugiyama N, Suzuki K, Sawada H, Arai T, Kosaka K.(2001)
-
-
1
Y Yang
./.
9
c.886A>G
r.(?)
p.(Asn296Asp)
-
-
Unknown
g.44087739A>G
Cohn-Hokke PE et al. (2014)
MAPT_000066
-
?
?
FTLD
Cohn-Hokke PE et al. (2014)
-
-
1
XY Liu
./.
9
c.888T>A
r.(?)
p.(Asn296Lys)
-
-
Unknown
g.44087741T>A
Brown J1, Lantos PL, Roques P, Fidani L, Rossor MN.(1996)
MAPT_000013
-
?
?
FTLD
Brown J1, Lantos PL, Roques P, Fidani L, Rossor MN.(1996)
-
-
1
Y Yang
./.
9
c.888T>A
r.(?)
p.(Asn296Lys)
-
-
Unknown
g.44087741T>A
Pastor P1, Pastor E, Carnero C, Vela R, GarcÃa T, Amer G, Tolosa E, Oliva R.(2001)
MAPT_000013
-
?
?
PSP
Pastor P1, Pastor E, Carnero C, Vela R, GarcÃa T, Amer G, Tolosa E, Oliva R.(2001)
-
-
1
Y Yang
./.
9
c.901C>A
r.(?)
p.(Pro301Thr)
-
-
Unknown
g.44087754C>A
Lladó A, Ezquerra M, Sánchez-Valle R, Rami L, Tolosa E, Molinuevo JL.(2007)
MAPT_000008
-
?
?
FTLD
Lladó A, Ezquerra M, Sánchez-Valle R, Rami L, Tolosa E, Molinuevo JL.(2007)
-
-
1
Y Yang
./.
9
c.901C>T
r.(?)
p.(Pro301Ser)
-
-
Unknown
g.44087754C>T
Sperfeld AD1, Collatz MB, Baier H, Palmbach M, Storch A, Schwarz J, Tatsch K, Reske S, Joosse M, Heutink P, Ludolph AC.(1999)
MAPT_000012
-
?
?
FTLD
Sperfeld AD1, Collatz MB, Baier H, Palmbach M, Storch A, Schwarz J, Tatsch K, Reske S, Joosse M, Heutink P, Ludolph AC.(1999)
-
-
1
Y Yang
./.
9
c.901C>T
r.(?)
p.(Pro301Ser)
-
-
Unknown
g.44087754C>T
Bellucci A et al. (2011)
MAPT_000012
-
?
?
FTLD
Bellucci A et al. (2011)
-
-
1
XY Liu
./.
9
c.902C>T
r.(?)
p.(Pro301Leu)
-
-
Unknown
g.44087755C>T
Heutink P1, Stevens M, Rizzu P, Bakker E, Kros JM, Tibben A, Niermeijer MF, van Duijn CM, Oostra BA, van Swieten JC.(1997)
MAPT_000001
-
?
?
FTLD
Heutink P1, Stevens M, Rizzu P, Bakker E, Kros JM, Tibben A, Niermeijer MF, van Duijn CM, Oostra BA, van Swieten JC.(1997)
-
-
1
Y Yang
./.
9
c.902C>T
r.(?)
p.(Pro301Leu)
-
-
Unknown
g.44087755C>T
Donker Kaat L1, Boon AJ, Azmani A, Kamphorst W, Breteler MM, Anar B, Heutink P, van Swieten JC.(2009)
MAPT_000001
-
?
?
PSP
Donker Kaat L1, Boon AJ, Azmani A, Kamphorst W, Breteler MM, Anar B, Heutink P, van Swieten JC.(2009)
-
-
1
Y Yang
./.
9
c.902C>T
r.(?)
p.(Pro301Leu)
-
-
Unknown
g.44087755C>T
Whitwell JL et al. (2011)
MAPT_000001
-
?
?
FTLD
Whitwell JL et al. (2011)
-
-
1
XY Liu
./.
9
c.902C>T
r.(?)
p.(Pro301Leu)
-
-
Unknown
g.44087755C>T
Schulz KL et al. (2012)
MAPT_000001
-
?
?
FTLD
Schulz KL et al. (2012)
-
-
1
XY Liu
./.
9
c.902C>T
r.(?)
p.(Pro301Leu)
-
-
Unknown
g.44087755C>T
Sitek EJ et al. (2014)
MAPT_000001
-
?
?
FTLD
Sitek EJ et al. (2014)
-
parkinsonism
1
XY Liu
./.
9
c.902C>T
r.(?)
p.(Pro301Leu)
-
-
Unknown
g.44087755C>T
Kimura T et al. (2013)
MAPT_000001
-
?
?
FTLD
Kimura T et al. (2013)
-
-
1
XY Liu
./.
9
c.902C>T
r.(?)
p.(Pro301Leu)
-
-
Unknown
g.44087755C>T
Rasmussen MA et al. (2016)
MAPT_000001
-
?
?
FTLD
Rasmussen MA et al. (2016)
-
-
1
XY Liu
./.
9
c.902C>T
r.(?)
p.(Pro301Leu)
-
-
Unknown
g.44087755C>T
Nimsanor N et aL. (2016)
MAPT_000001
-
?
?
FTLD
Nimsanor N et aL. (2016)
-
57-year-old female
1
XY Liu
./.
9
c.903G>A
r.(=)
p.(=)
-
-
Unknown
g.44087756G>A
Miyamoto K et al. (2011)
MAPT_000067
-
?
?
FTLD
Miyamoto K et al. (2011)
-
-
1
XY Liu
./.
9
c.908G>T
r.(?)
p.(Gly303Val)
-
-
Unknown
g.44087761G>T
Ros R1, Thobois S, Streichenberger N, Kopp N, Sánchez MP, Pérez M, Hoenicka J, Avila J, Honnorat J, de Yébenes JG.(2005)
MAPT_000043
-
?
?
PSP
Ros R1, Thobois S, Streichenberger N, Kopp N, Sánchez MP, Pérez M, Hoenicka J, Avila J, Honnorat J, de Yébenes JG.(2005)
-
-
1
Y Yang
./.
9
c.914G>A
r.(?)
p.(Ser305Asn)
-
-
Unknown
g.44087767G>A
Iijima M1, Tabira T, Poorkaj P, Schellenberg GD, Trojanowski JQ, Lee VM, Schmidt ML, Takahashi K, Nabika T, Matsumoto T, Yamashita Y, Yoshioka S, Ishino H.(1999)
MAPT_000011
-
?
?
FTLD
Iijima M1, Tabira T, Poorkaj P, Schellenberg GD, Trojanowski JQ, Lee VM, Schmidt ML, Takahashi K, Nabika T, Matsumoto T, Yamashita Y, Yoshioka S, Ishino H.(1999)
-
-
1
Y Yang
./.
9
c.914G>A
r.(?)
p.(Ser305Asn)
-
-
Unknown
g.44087767G>A
Whitwell JL et al. (2011)
MAPT_000011
-
?
?
FTLD
Whitwell JL et al. (2011)
-
-
1
XY Liu
./.
9
c.914G>T
r.(?)
p.(Ser305Ile)
-
-
Unknown
g.44087767G>T
Nimsanor N et al. (2016)
MAPT_000059
-
?
?
FTLD
Nimsanor N et al. (2016)
-
-
1
XY Liu
./.
IVS10
c.915+11T>C
r.(=)
p.(=)
-
-
Unknown
g.44087779T>C
Miyamoto K et al. (2011)
MAPT_000035
-
?
?
FTLD
Miyamoto K et al. (2011)
-
-
1
XY Liu
./.
IVS10
c.915+15A>C
r.(=)
p.(=)
-
-
Unknown
g.44087783A>C
McCarthy A et al. (2015)
MAPT_000075
-
?
?
FTLD
McCarthy A et al. (2015)
-
-
1
XY Liu
./.
IVS10
c.915+16C>T
r.(=)
p.(=)
-
-
Unknown
g.44087784C>T
Takada LT et al. (2016)
MAPT_000031
-
?
?
FTLD
Takada LT et al. (2016)
-
-
1
XY Liu
./.
10
c.944T>G
r.(?)
p.(Leu315Arg)
-
-
Unknown
g.44091637T>G
van Herpen E et al. (2003)
MAPT_000068
-
?
?
FTLD
van Herpen E et al. (2003)
-
-
1
XY Liu
./.
10
c.950A>T
r.(?)
p.(Lys317Met)
-
-
Unknown
g.44091643A>T
Zarranz JJ1, Ferrer I, Lezcano E, Forcadas MI, Eizaguirre B, Atarés B, Puig B, Gómez-Esteban JC, Fernández-Maiztegui C, Rouco I, Pérez-Concha T, Fernández M, RodrÃguez O, RodrÃguez-MartÃnez AB, de Pancorbo MM(2005)
MAPT_000017
-
?
?
FTLD
"
Zarranz JJ1, Ferrer I, Lezcano E, Forcadas MI, Eizaguirre B, Atarés B, Puig B, Gómez-Esteban JC, Fernández-Maiztegui C, Rouco I, Pérez-Concha T, Fernández M, RodrÃguez O(2005)
-
-
1
Y Yang
./.
10
c.959C>T
r.(?)
p.(Ser320Phe)
-
-
Unknown
g.44091652C>T
Rosso SM1, van Herpen E, Deelen W, Kamphorst W, Severijnen LA, Willemsen R, Ravid R, Niermeijer MF, Dooijes D, Smith MJ, Goedert M, Heutink P, van Swieten JC.(2002)
MAPT_000005
-
?
?
FTLD
Rosso SM1, van Herpen E, Deelen W, Kamphorst W, Severijnen LA, Willemsen R, Ravid R, Niermeijer MF, Dooijes D, Smith MJ, Goedert M, Heutink P, van Swieten JC.(2002)
-
-
1
Y Yang
./.
10
c.994C>T
r.(?)
p.(Pro332Ser)
-
-
Unknown
g.44091687C>T
Deramecourt V et al. (2012)
MAPT_000069
-
?
?
FTLD
Deramecourt V et al. (2012)
-
-
1
XY Liu
./.
11
c.1003G>A
r.(?)
p.(Gly335Ser)
-
-
Unknown
g.44095989G>A
Spina S et al. (2007)
MAPT_000070
-
?
?
FTLD
Spina S et al. (2007)
-
-
1
XY Liu
./.
11
c.1004G>T
r.(?)
p.(Gly335Val)
-
-
Unknown
g.44095990G>T
Neumann M1, Diekmann S, Bertsch U, Vanmassenhove B, Bogerts B, Kretzschmar HA.(2005)
MAPT_000006
-
?
?
FTLD
Neumann M1, Diekmann S, Bertsch U, Vanmassenhove B, Bogerts B, Kretzschmar HA.(2005)
-
-
1
Y Yang
./.
11
c.1007A>G
r.(?)
p.(Gln336Arg)
-
-
Unknown
g.44095993A>G
Pickering-Brown SM1, Baker M, Nonaka T, Ikeda K, Sharma S, Mackenzie J, Simpson SA, Moore JW, Snowden JS, de Silva R, Revesz T, Hasegawa M, Hutton M, Mann DM.(2004)
MAPT_000021
-
?
?
FTLD
Pickering-Brown SM1, Baker M, Nonaka T, Ikeda K, Sharma S, Mackenzie J, Simpson SA, Moore JW, Snowden JS, de Silva R, Revesz T, Hasegawa M, Hutton M, Mann DM.(2004)
-
-
1
Y Yang
./.
11
c.1008G>T
r.(?)
p.(Gln336His)
-
-
Unknown
g.44095994G>T
Tacik P et al. (2015)
MAPT_000071
-
?
?
FTLD
Tacik P et al. (2015)
-
-
1
XY Liu
./.
11
c.1009G>A
r.(?)
p.(Val337Met)
-
-
Unknown
g.44095995G>A
Poorkaj P1, Bird TD, Wijsman E, Nemens E, Garruto RM, Anderson L, Andreadis A, Wiederholt WC, Raskind M, Schellenberg GD.(1998)
MAPT_000009
-
?
?
FTLD
Poorkaj P1, Bird TD, Wijsman E, Nemens E, Garruto RM, Anderson L, Andreadis A, Wiederholt WC, Raskind M, Schellenberg GD.(1998)
-
-
1
Y Yang
./.
11
c.1009G>A
r.(?)
p.(Val337Met)
-
-
Unknown
g.44095995G>A
Domoto-Reilly K et al. (2017)
MAPT_000009
-
?
?
FTLD
Domoto-Reilly K et al. (2017)
-
-
1
XY Liu
./.
11
c.1009G>A
r.(?)
p.(Val337Met)
-
-
Unknown
g.44095995G>A
Spina S et al. (2017)
MAPT_000009
-
?
?
FTLD
Spina S et al. (2017)
-
-
1
XY Liu
./.
11
c.1025A>T
r.(?)
p.(Glu342Val)
-
-
Unknown
g.44096011A>T
Lippa CF1, Zhukareva V, Kawarai T, Uryu K, Shafiq M, Nee LE, Grafman J, Liang Y, St George-Hyslop PH, Trojanowski JQ, Lee VM.(2000)
MAPT_000014
-
?
?
FTLD
Lippa CF1, Zhukareva V, Kawarai T, Uryu K, Shafiq M, Nee LE, Grafman J, Liang Y, St George-Hyslop PH, Trojanowski JQ, Lee VM.(2000)
-
-
1
Y Yang
?/.
11
c.1043A>G
r.(1043a>g)
p.(Asp348Gly)
-
-
Unknown
g.44096029A>G
Paola Origone, et al. (2018)
MAPT_000076
-
?
?
ALS
Paola Origone, et al. (2018)
Italian
-
1
XY Liu
./.
11
c.1052A>G
r.(?)
p.(Gln351Arg)
-
-
Unknown
g.44096038A>G
Liang Y et al. (2014)
MAPT_000057
-
?
?
FTLD
Liang Y et al. (2014)
-
-
1
XY Liu
./.
11
c.1066T>A
r.(?)
p.(Ser356Thr)
-
-
Unknown
g.44096052T>A
Momeni P1, Wickremaratchi MM, Bell J, Arnold R, Beer R, Hardy J, Revesz T, Neal JW, Morris HR.(2010)
MAPT_000023
-
?
?
FTLD
Momeni P1, Wickremaratchi MM, Bell J, Arnold R, Beer R, Hardy J, Revesz T, Neal JW, Morris HR.(2010)
-
-
1
Y Yang
./.
11
c.1087G>A
r.(?)
p.(Val363Ile)
-
-
Unknown
g.44096073G>A
Anfossi M1, Bernardi L, Gallo M, Geracitano S, Colao R, Puccio G, Curcio SA, Frangipane F, Mirabelli M, Tomaino C, Smirne N, Maletta R, Bruni AC.(2011)
MAPT_000024
-
?
?
FTLD
Anfossi M1, Bernardi L, Gallo M, Geracitano S, Colao R, Puccio G, Curcio SA, Frangipane F, Mirabelli M, Tomaino C, Smirne N, Maletta R, Bruni AC.(2011)
-
-
1
Y Yang
./.
11
c.1087G>A
r.(?)
p.(Val363Ile)
-
-
Unknown
g.44096073G>A
Anfossi M et aL. (2011)
MAPT_000024
-
?
?
FTLD
Anfossi M et aL. (2011)
-
-
1
XY Liu
./.
11
c.1090C>T
r.(?)
p.(Pro364Ser)
-
-
Unknown
g.44096076C>T
Rossi G et al. (2012)
MAPT_000072
-
?
?
FTLD
Rossi G et al. (2012)
-
-
1
XY Liu
./.
11
c.1096G>C
r.(?)
p.(Gly366Arg)
-
-
Unknown
g.44096082G>C
Rossi G et al. (2012)
MAPT_000073
-
?
?
FTLD
Rossi G et al. (2012)
-
-
1
XY Liu
./.
11
c.1106A>T
r.(?)
p.(Lys369Ile)
-
-
Unknown
g.44096092A>T
Neumann M1, Schulz-Schaeffer W, Crowther RA, Smith MJ, Spillantini MG, Goedert M, Kretzschmar HA.(2001)
MAPT_000020
-
?
?
FTLD
Neumann M1, Schulz-Schaeffer W, Crowther RA, Smith MJ, Spillantini MG, Goedert M, Kretzschmar HA.(2001)
-
-
1
Y Yang
./.
12
c.1165G>A
r.(?)
p.(Gly389Arg)
-
-
Unknown
g.44101376G>A
Sun L et al. (2017)
MAPT_000060
-
?
?
FTLD
Sun L et al. (2017)
-
-
1
XY Liu
./.
12
c.1165G>C
r.(?)
p.(Gly389Arg)
-
-
Unknown
g.44101376G>C
Sobrido MJ1, Miller BL, Havlioglu N, Zhukareva V, Jiang Z, Nasreddine ZS, Lee VM, Chow TW, Wilhelmsen KC, Cummings JL, Wu JY, Geschwind DH.(2003)
MAPT_000004
-
?
?
FTLD
Sobrido MJ1, Miller BL, Havlioglu N, Zhukareva V, Jiang Z, Nasreddine ZS, Lee VM, Chow TW, Wilhelmsen KC, Cummings JL, Wu JY, Geschwind DH.(2003)
-
-
1
Y Yang
./.
12
c.1165G>C
r.(?)
p.(Gly389Arg)
-
-
Unknown
g.44101376G>C
Whitwell JL et al. (2011)
MAPT_000004
-
?
?
FTLD
Whitwell JL et al. (2011)
-
-
1
XY Liu
./.
12
c.1216C>T
r.(?)
p.(Arg406Trp)
-
-
Unknown
g.44101427C>T
Reed LA1, Grabowski TJ, Schmidt ML, Morris JC, Goate A, Solodkin A, Van Hoesen GW, Schelper RL, Talbot CJ, Wragg MA, Trojanowski JQ.(1997)
MAPT_000003
-
?
?
FTLD
Reed LA1, Grabowski TJ, Schmidt ML, Morris JC, Goate A, Solodkin A, Van Hoesen GW, Schelper RL, Talbot CJ, Wragg MA, Trojanowski JQ.(1997)
-
-
1
Y Yang
./.
8
c.1216C>T
r.(?)
p.(Arg406Trp)
-
-
Unknown
g.44101427C>T
Smith R et al. (2016)
MAPT_000052
-
?
?
AD
Smith R et al. (2016)
-
Risk loci
1
XY Liu
./.
12
c.1216C>T
r.(?)
p.(Arg406Trp)
-
-
Unknown
g.44101427C>T
Ikeuchi T et al. (2011)
MAPT_000003
-
?
?
FTLD
Ikeuchi T et al. (2011)
-
with parkinsonism
1
XY Liu
./.
12
c.1216C>T
r.(?)
p.(Arg406Trp)
-
-
Unknown
g.44101427C>T
Gauthier-Kemper A et al. (2011)
MAPT_000003
-
?
?
FTLD
Gauthier-Kemper A et al. (2011)
-
-
1
XY Liu
./.
12
c.1216C>T
r.(?)
p.(Arg406Trp)
-
-
Unknown
g.44101427C>T
Kimura T et al. (2013)
MAPT_000003
-
?
?
FTLD
Kimura T et al. (2013)
-
-
1
XY Liu
./.
12
c.1216C>T
r.(?)
p.(Arg406Trp)
-
-
Unknown
g.44101427C>T
Ishida C et al. (2015)
MAPT_000003
-
?
?
FTLD
Ishida C et al. (2015)
-
-
1
XY Liu
./.
12
c.1216C>T
r.(?)
p.(Arg406Trp)
-
-
Unknown
g.44101427C>T
Behnam M et al. (2015)
MAPT_000003
-
?
?
FTLD
Behnam M et al. (2015)
-
-
1
XY Liu
./.
12
c.1216C>T
r.(?)
p.(Arg406Trp)
-
-
Unknown
g.44101427C>T
Rasmussen MA et al. (2016)
MAPT_000003
-
?
?
FTLD
Rasmussen MA et al. (2016)
-
-
1
XY Liu
./.
12
c.1216C>T
r.(?)
p.(Arg406Trp)
-
-
Unknown
g.44101427C>T
Nimsanor N et al. (2016)
MAPT_000003
-
?
?
FTLD
Nimsanor N et al. (2016)
-
59-year-old female patient
1
XY Liu
./.
12
c.1216C>T
r.(?)
p.(Arg406Trp)
-
-
Unknown
g.44101427C>T
Nimsanor N et al. (2016)
MAPT_000003
-
?
?
FTLD
Nimsanor N et al. (2016)
-
28-year-old woman
1
XY Liu
./.
12
c.1280C>T
r.(?)
p.(Thr427Met)
-
-
Unknown
g.44101491C>T
Giaccone G, Rossi G, Farina L, Marcon G, Di Fede G, Catania M, Morbin M, Sacco L, Bugiani O, Tagliavini F.(2005)
MAPT_000007
-
?
?
FTLD
Giaccone G, Rossi G, Farina L, Marcon G, Di Fede G, Catania M, Morbin M, Sacco L, Bugiani O, Tagliavini F.(2005)
-
-
1
Y Yang
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