NDDVD - Neurodegenerative Diseases Variation Database
FUS (FUS RNA binding protein)
LOVD v.3.0 Build 29 [
Current LOVD status
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Curator:
Y Yang
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Full data view for gene FUS
The variants shown are described using the NM_004960.3 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.
132 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.122A>G
r.(?)
p.(Tyr41Cys)
-
-
Unknown
g.31193917A>G
Cinzia Bertolin, Carla D'Ascenzo, Giorgia Querin, et al. (2014)
FUS_000063
-
?
?
ALS
Cinzia Bertolin, Carla D'Ascenzo, Giorgia Querin, et al. (2014)
-
-
1
XY Liu
./.
3
c.175_176insGG
r.(?)
p.(Gln60Alafs*126)
VariO:0142 DNA insertion
VariO:0023 amphigoric amino acid indel
Unknown
g.31193970_31193971insGG
Kwiatkowski TJ Jr1, Bosco DA, Leclerc AL, Tamrazian E, Vanderburg CR, Russ C, Davis A, Gilchrist J, Kasarskis EJ, Munsat T, Valdmanis P, Rouleau GA, Hosler BA, Cortelli P, de Jong PJ, Yoshinaga Y, Haines JL, Pericak-Vance MA, Yan J(2009)
FUS_000001
-
?
?
ALS
"
Kwiatkowski TJ Jr1, Bosco DA, Leclerc AL, Tamrazian E, Vanderburg CR, Russ C, Davis A, Gilchrist J, Kasarskis EJ, Munsat T, Valdmanis P, Rouleau GA, Hosler BA, Cortelli P(2009)
-
-
1
Y Yang
?/.
5
c.419A>G
r.(?)
p.(Gln140Arg)
-
-
Unknown
g.31195613A>G
Zhang-Yu Zou, et al. (2021)
FUS_000073
-
?
?
ALS
Zhang-Yu Zou, et al. (2021)
-
-
1
XY Liu
./.
5
c.420G>T
r.(?)
p.(Gln140His)
-
-
Unknown
g.31195614G>T
Ferrer I et al. (2015)
FUS_000038
-
?
?
FTLD
Ferrer I et al. (2015)
-
uncertain significance
1
XY Liu
?/.
5
c.453C>T
r.(=)
p.(=)
-
-
Unknown
g.31195647C>T
Z-Y Zou, Y Peng, X-H Feng, X-N Wang, Q Sun, M-S Liu, X-G Li, L-Y Cui (2012)
FUS_000053
-
?
?
ALS
Z-Y Zou, Y Peng, X-H Feng, X-N Wang, Q Sun, M-S Liu, X-G Li, L-Y Cui (2012)
Chinese
-
1
XY Liu
./.
5i
c.523+3_523+4insGAGGTG
r.spl?
p.?
VariO:0142 DNA insertion
-
Unknown
g.31195720_31195721insGAGGTG
Sproviero W1, La Bella V, Mazzei R, Valentino P, Rodolico C, Simone IL, Logroscino G, Ungaro C, Magariello A, Patitucci A, Tedeschi G, Spataro R, Condino F, Bono F, Citrigno L, Monsurrò MR, Muglia M, Gambardella A, Quattrone A(2012)
FUS_000024
-
?
?
ALS
Sproviero W, La Bella V, Mazzei R, Valentino P, Rodolico C, Simone IL, Logroscino G, Ungaro C, Magariello A, Patitucci A, Tedeschi G, Spataro R, Condino F, Bono F, Citrigno L (2012)
-
-
1
Y Yang
?/.
6
c.559G>A
r.(?)
p.(Gly187Ser)
-
-
Unknown
g.31196295G>A
Rosa Rademakers, Heather Stewart, Mariely Dejesus-Hernandez, et al.
FUS_000050
-
?
?
ALS
Rosa Rademakers, Heather Stewart, Mariely Dejesus-Hernandez, et al.
-
-
1
XY Liu
?/.
6
c.571G>A
r.(?)
p.(Gly191Ser)
-
-
Unknown
g.31196307G>A
Lucia Corrado, Roberto Del Bo, Barbara Castellotti, et al.
FUS_000040
-
?
?
ALS
Lucia Corrado, Roberto Del Bo, Barbara Castellotti, et al.
Italian
-
1
XY Liu
?/.
6
c.646C>T
r.(?)
p.(Arg216Cys)
-
-
Unknown
g.31196382C>T
Lucia Corrado, Roberto Del Bo, Barbara Castellotti, et al.
FUS_000041
-
?
?
ALS
Lucia Corrado, Roberto Del Bo, Barbara Castellotti, et al.
Italian
-
1
XY Liu
?/.
6
c.648C>T
r.(=)
p.(=)
-
-
Unknown
g.31196384C>T
Z-Y Zou, Y Peng, X-H Feng, X-N Wang, Q Sun, M-S Liu, X-G Li, L-Y Cui (2012)
FUS_000054
-
?
?
ALS
Z-Y Zou, Y Peng, X-H Feng, X-N Wang, Q Sun, M-S Liu, X-G Li, L-Y Cui (2012)
Chinese
-
1
XY Liu
?/.
6
c.674G>T
r.(?)
p.(Gly225Val)
-
-
Unknown
g.31196410G>T
Lucia Corrado, Roberto Del Bo, Barbara Castellotti, et al.
FUS_000042
-
?
?
ALS
Lucia Corrado, Roberto Del Bo, Barbara Castellotti, et al.
Italian
-
1
XY Liu
?/.
6
c.688G>T
r.(?)
p.(Gly230Cys)
-
-
Unknown
g.31196424G>T
Lucia Corrado, Roberto Del Bo, Barbara Castellotti, et al.
FUS_000043
-
?
?
ALS
Lucia Corrado, Roberto Del Bo, Barbara Castellotti, et al.
Italian
-
1
XY Liu
?/.
6
c.700C>T
r.(?)
p.(Arg234Cys)
-
-
Unknown
g.31196436C>T
Lucia Corrado, Roberto Del Bo, Barbara Castellotti, et al.
FUS_000044
-
?
?
ALS
Lucia Corrado, Roberto Del Bo, Barbara Castellotti, et al.
Italian
-
1
XY Liu
./.
6
c.730C>T
r.(?)
p.(Arg244Cys)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
VariO:0021 amino acid substitution
Unknown
g.31196466C>T
Kwiatkowski TJ Jr1, Bosco DA, Leclerc AL, Tamrazian E, Vanderburg CR, Russ C, Davis A, Gilchrist J, Kasarskis EJ, Munsat T, Valdmanis P, Rouleau GA, Hosler BA, Cortelli P, de Jong PJ, Yoshinaga Y, Haines JL, Pericak-Vance MA, Yan J(2009)
FUS_000002
-
?
?
ALS
"
Kwiatkowski TJ Jr1, Bosco DA, Leclerc AL, Tamrazian E, Vanderburg CR, Russ C, Davis A, Gilchrist J, Kasarskis EJ, Munsat T, Valdmanis P, Rouleau GA, Hosler BA, Cortelli P(2009)
-
-
1
Y Yang
./.
6
c.734G>T
r.(?)
p.(Gly245Val)
-
-
Unknown
g.31196470G>T
26176978 et al. (2015)
FUS_000030
-
?
?
ALS
26176978 et al. (2015)
-
-
1
XY Liu
./.
6
c.760A>G
r.(?)
p.(Met254Val)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
Unknown
g.31196496A>G
Van Langenhove T1, van der Zee J, Sleegers K, Engelborghs S, Vandenberghe R, Gijselinck I, Van den Broeck M, Mattheijssens M, Peeters K, De Deyn PP, Cruts M, Van Broeckhoven C.(2010)
FUS_000023
-
?
?
FTLD
Van Langenhove T1, van der Zee J, Sleegers K, Engelborghs S, Vandenberghe R, Gijselinck I, Van den Broeck M, Mattheijssens M, Peeters K, De Deyn PP, Cruts M, Van Broeckhoven C.(2010)
-
-
1
Y Yang
?/.
13
c.1385C>T
r.(?)
p.(Ser462Phe)
-
-
Unknown
g.31202155C>T
Ewout J N Groen, Michael A van Es, Paul W J van Vught, et al.
FUS_000046
-
?
?
ALS
Ewout J N Groen, Michael A van Es, Paul W J van Vught, et al.
Dutch
-
1
XY Liu
./.
13
c.1392G>T
r.(?)
p.(Met464Ile)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
Unknown
g.31202162G>T
Nagayama S1, Minato-Hashiba N, Nakata M, Kaito M, Nakanishi M, Tanaka K, Arai M, Akiyama H, Matsui M.(2012)
FUS_000019
-
?
?
ALS
Nagayama S1, Minato-Hashiba N, Nakata M, Kaito M, Nakanishi M, Tanaka K, Arai M, Akiyama H, Matsui M.(2012)
-
-
1
Y Yang
?/.
13i
c.1393+34G>C
r.(=)
p.(=)
-
-
Unknown
g.31202197G>C
Sproviero W, La Bella V, Mazzei R, Valentino P, Rodolico C, Simone IL, Logroscino G, Ungaro C, Magariello A, Patitucci A, Tedeschi G, Spataro R, Condino F, Bono F, Citrigno L (2012)
FUS_000052
-
?
?
ALS
Sproviero W, La Bella V, Mazzei R, Valentino P, Rodolico C, Simone IL, Logroscino G, Ungaro C, Magariello A, Patitucci A, Tedeschi G, Spataro R, Condino F, Bono F, Citrigno L (2012)
-
-
1
XY Liu
./.
13i
c.1394-2A>G
r.spl?
p.?
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
-
Unknown
g.31202282A>G
Kim YE1, Oh KW2, Kwon MJ3, Choi WJ2, Oh SI4, Ki CS5, Kim SH6.(2015
FUS_000028
-
?
?
ALS
Kim YE1, Oh KW2, Kwon MJ3, Choi WJ2, Oh SI4, Ki CS5, Kim SH6.(2015
Korean
-
1
Y Yang
+/.
13i
c.1394-2A>G
r.spl?
p.G466VfsX14
-
-
Unknown
g.31202282A>G
Mariely DeJesus-Hernandez, Jannet Kocerha, NiCole Finch, et al.
FUS_000028
-
?
?
ALS
Mariely DeJesus-Hernandez, Jannet Kocerha, NiCole Finch, et al.
-
-
1
XY Liu
?/.
14
c.1432_1478del
r.(?)
p.(Gly478Leufs*23)
-
-
Unknown
g.31202322_31202368del
Waibel S, Neumann M, Rosenbohm A, Birve A, Volk AE, Weishaupt JH, Meyer T, Müller U, Andersen PM, Ludolph AC.(2013)
FUS_000058
-
?
?
ALS
Waibel S, Neumann M, Rosenbohm A, Birve A, Volk AE, Weishaupt JH, Meyer T, Müller U, Andersen PM, Ludolph AC.(2013)
Germany
-
1
XY Liu
?/.
14
c.1456_1457del
r.(?)
p.(Gly486Profs*30)
-
-
Unknown
g.31202346_31202347del
Z-J Liu, et al. (2017)
FUS_000067
-
?
?
ALS
Z-J Liu, et al. (2017)
Chinese
-
1
XY Liu
?/.
14
c.1464C>T
r.(=)
p.(=)
-
-
Unknown
g.31202354C>T
Z-Y Zou, Y Peng, X-H Feng, X-N Wang, Q Sun, M-S Liu, X-G Li, L-Y Cui (2012)
FUS_000055
-
?
?
ALS
Z-Y Zou, Y Peng, X-H Feng, X-N Wang, Q Sun, M-S Liu, X-G Li, L-Y Cui (2012)
Chinese
-
1
XY Liu
./.
14
c.1475delG
r.(?)
p.(Gly492Glufs*37)
VariO:0141 DNA deletion
VariO:0023 amphigoric amino acid indel
Unknown
g.31202365delG
Yamashita S1, Mori A, Sakaguchi H, Suga T, Ishihara D, Ueda A, Yamashita T, Maeda Y, Uchino M, Hirano T.(2012)
FUS_000017
-
?
?
ALS
Yamashita S1, Mori A, Sakaguchi H, Suga T, Ishihara D, Ueda A, Yamashita T, Maeda Y, Uchino M, Hirano T.(2012)
-
-
1
Y Yang
./.
14
c.1483C>T
r.(?)
p.(Arg495*)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
VariO:0015 protein truncation
Unknown
g.31202373C>T
Waibel S1, Neumann M, Rosenbohm A, Birve A, Volk AE, Weishaupt JH, Meyer T, Müller U, Andersen PM, Ludolph AC.(2013)
FUS_000021
-
?
?
ALS
Waibel S, Neumann M, Rosenbohm A, Birve A, Volk AE, Weishaupt JH, Meyer T, Müller U, Andersen PM, Ludolph AC.(2013)
Germany
-
1
Y Yang
./.
14
c.1483C>T
r.(?)
p.(Arg495*)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
VariO:0015 protein truncation
Unknown
g.31202373C>T
Calvo A1, Moglia C1, Canosa A1, Brunetti M2, Barberis M2, Traynor BJ3, Carrara G4, Valentini C4, Restagno G2, Chiò A5.(2014)
FUS_000021
-
?
?
ALS
Calvo A1, Moglia C1, Canosa A1, Brunetti M2, Barberis M2, Traynor BJ3, Carrara G4, Valentini C4, Restagno G2, Chiò A5.(2014)
-
-
1
Y Yang
./.
14
c.1483C>T
r.(?)
p.(Arg495*)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
VariO:0015 protein truncation
Unknown
g.31202373C>T
Kim YE1, Oh KW2, Kwon MJ3, Choi WJ2, Oh SI4, Ki CS5, Kim SH6.(2015
FUS_000021
-
?
?
ALS
Kim YE1, Oh KW2, Kwon MJ3, Choi WJ2, Oh SI4, Ki CS5, Kim SH6.(2015
Korean
-
1
Y Yang
./.
14
c.1483C>T
r.(?)
p.(Arg495*)
-
-
Unknown
g.31202373C>T
Lim SM et al. (2016)
FUS_000021
-
?
?
ALS
Lim SM et al. (2016)
-
-
1
XY Liu
?/.
14
c.1483C>T
r.(?)
p.(Arg495*)
-
-
Unknown
g.31202373C>T
S Waibel, M Neumann, M Rabe, T Meyer, A C Ludolph
FUS_000021
-
?
?
ALS
S Waibel, M Neumann, M Rabe, T Meyer, A C Ludolph
Germany
-
1
XY Liu
?/.
14
c.1483C>T
r.(?)
p.(Arg495*)
-
-
Unknown
g.31202373C>T
Zhang-Yu Zou, Li-Ying Cui, Qing Sun, Xiao-Guang Li, Ming-Sheng Liu, Yan Xu, Yan Zhou, Xun-Zhe Yang (2013)
FUS_000021
-
?
?
ALS
Zhang-Yu Zou, Li-Ying Cui, Qing Sun, Xiao-Guang Li, Ming-Sheng Liu, Yan Xu, Yan Zhou, Xun-Zhe Yang (2013)
Chinese
-
1
XY Liu
?/.
14
c.1483C>T
r.(?)
p.(Arg495*)
-
-
Unknown
g.31202373C>T
Xiaolong Yu, et al. (2018)
FUS_000021
-
?
?
ALS
Xiaolong Yu, et al. (2018)
-
-
1
XY Liu
?/.
14
c.1483C>T
r.(?)
p.(Arg495*)
-
-
Unknown
g.31202373C>T
Katherine Claire Dodd, et al. (2019)
FUS_000021
-
?
?
ALS
Katherine Claire Dodd, et al. (2019)
British
-
1
XY Liu
?/.
14
c.1486del
r.(?)
p.(Gly497Alafs*32)
-
-
Unknown
g.31202376del
Cinzia Bertolin, Carla D'Ascenzo, Giorgia Querin, et al. (2014)
FUS_000064
-
?
?
ALS
Cinzia Bertolin, Carla D'Ascenzo, Giorgia Querin, et al. (2014)
-
-
1
XY Liu
?/.
14
c.1489_1490dup
r.(?)
p.(Arg498Alafs*32)
-
-
Unknown
g.31202379_31202380dup
Z-J Liu, et al. (2017)
FUS_000068
-
?
?
ALS
Z-J Liu, et al. (2017)
Chinese
-
1
XY Liu
?/.
14
c.1504del
r.(?)
p.(Asp502Thrfs*27)
-
-
Unknown
g.31202394del
Annemarie Hübers, Walter Just, Angela Rosenbohm et al. (2015)
FUS_000065
-
?
?
ALS
Annemarie Hübers, Walter Just, Angela Rosenbohm et al. (2015)
Germany
-
1
XY Liu
./.
14
c.1507_1508delAG
r.(?)
p.(?)
-
-
Unknown
g.31202397_31202398delAG
Hirayanagi K et al. (2016)
FUS_000034
-
?
?
ALS
Hirayanagi K et al. (2016)
-
-
1
XY Liu
?/.
14
c.1509dup
r.(?)
p.(Gly504Argfs*13)
-
-
Unknown
g.31202399dup
Li Chen, et al. (2020)
FUS_000070
-
?
?
ALS
Li Chen, et al. (2020)
Chinese
-
1
XY Liu
?/.
14
c.1509dup
r.(?)
p.(Gly504Argfs*13)
-
-
Unknown
g.31202399dup
Li Chen, et al. (2020)
FUS_000070
-
?
?
ALS
Li Chen, et al. (2020)
Chinese
-
1
XY Liu
?/.
14
c.1509_1510del
r.(?)
p.(Gly504Trpfs*12)
-
-
Unknown
g.31202399_31202400del
Zhang-Yu Zou, Li-Ying Cui, Qing Sun, Xiao-Guang Li, Ming-Sheng Liu, Yan Xu, Yan Zhou, Xun-Zhe Yang (2013)
FUS_000057
-
?
?
ALS
Zhang-Yu Zou, Li-Ying Cui, Qing Sun, Xiao-Guang Li, Ming-Sheng Liu, Yan Xu, Yan Zhou, Xun-Zhe Yang (2013)
Chinese
-
1
XY Liu
+/.
14
c.1509_1510del
r.(?)
p.(Gly504Trpfs*12)
-
-
Unknown
g.31202399_31202400del
Paola Lanteri, et al. (2021)
FUS_000057
-
?
?
ALS
Paola Lanteri, et al. (2021)
-
-
1
XY Liu
?/.
14
c.1510dup
r.(?)
p.(Gly505Trpfs*12)
-
-
Unknown
g.31202400dup
Xiaolong Yu, et al. (2018)
FUS_000069
-
?
?
ALS
Xiaolong Yu, et al. (2018)
-
-
1
XY Liu
+/.
14
c.1520del
r.(?)
p.(Gly507Alafs*22)
-
-
Unknown
g.31202410del
Ying Wu, et al. (2022)
FUS_000076
-
?
?
ALS
Ying Wu, et al. (2022)
Chinese
-
1
XY Liu
?/.
14
c.1520G>A
r.(?)
p.(Gly507Asp)
-
-
Unknown
g.31202410G>A
Lucia Corrado, Roberto Del Bo, Barbara Castellotti, et al.
FUS_000045
-
?
?
ALS
Lucia Corrado, Roberto Del Bo, Barbara Castellotti, et al.
Italian
-
1
XY Liu
+/.
14
c.1520G>A
r.(?)
p.(Gly507Asp)
-
-
Unknown
g.31202410G>A
Ilaria Martinelli, et al. (2022)
FUS_000045
-
?
?
ALS
Ilaria Martinelli, et al. (2022)
-
-
1
XY Liu
./.
14
c.1526G>A
r.(?)
p.(Gly509Asp)
-
-
Unknown
g.31202416G>A
26176978 et al. (2015)
FUS_000031
-
?
?
ALS
26176978 et al. (2015)
-
-
1
XY Liu
?/.
14
c.1528A>G
r.(?)
p.(Lys510Glu)
-
-
Unknown
g.31202418A>G
Naoki Suzuki, Masashi Aoki, Hitoshi Warita, et al.
FUS_000048
-
?
?
ALS
Naoki Suzuki, Masashi Aoki, Hitoshi Warita, et al.
Japanese
-
1
XY Liu
?/.
14
c.1528A>G
r.(?)
p.(Lys510Glu)
-
-
Unknown
g.31202418A>G
Andrew King, Claire Troakes, Bradley Smith et al. (2015)
FUS_000048
-
?
?
ALS
Andrew King, Claire Troakes, Bradley Smith et al. (2015)
-
-
1
XY Liu
./.
14
c.1529A>G
r.(?)
p.(Lys510Arg)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
Unknown
g.31202419A>G
Waibel S1, Neumann M, Rosenbohm A, Birve A, Volk AE, Weishaupt JH, Meyer T, Müller U, Andersen PM, Ludolph AC.(2013)
FUS_000020
-
?
?
ALS
Waibel S, Neumann M, Rosenbohm A, Birve A, Volk AE, Weishaupt JH, Meyer T, Müller U, Andersen PM, Ludolph AC.(2013)
Germany
-
1
Y Yang
?/.
14
c.1529A>G
r.(?)
p.(Lys510Arg)
-
-
Unknown
g.31202419A>G
S Waibel, M Neumann, M Rabe, T Meyer, A C Ludolph
FUS_000020
-
?
?
ALS
S Waibel, M Neumann, M Rabe, T Meyer, A C Ludolph
Germany
-
1
XY Liu
./.
14
c.1529A>T
r.(?)
p.(Lys510Met)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
Unknown
g.31202419A>T
Mochizuki Y1, Kawata A, Maruyama H, Homma T, Watabe K, Kawakami H, Komori T, Mizutani T, Matsubara S.(2014)
FUS_000022
-
?
?
ALS
Mochizuki Y1, Kawata A, Maruyama H, Homma T, Watabe K, Kawakami H, Komori T, Mizutani T, Matsubara S.(2014)
Japanese
-
1
Y Yang
?/.
14
c.1537T>C
r.(?)
p.(Ser513Pro)
-
-
Unknown
g.31202427T>C
Naoki Suzuki, Masashi Aoki, Hitoshi Warita, et al.
FUS_000047
-
?
?
ALS
Naoki Suzuki, Masashi Aoki, Hitoshi Warita, et al.
Japanese
-
1
XY Liu
./.
15
c.1540A>G
r.(?)
p.(Arg514Gly)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
Unknown
g.31202430A>G
Vance C1, Rogelj B, Hortobágyi T, De Vos KJ, Nishimura AL, Sreedharan J, Hu X, Smith B, Ruddy D, Wright P, Ganesalingam J, Williams KL, Tripathi V, Al-Saraj S, Al-Chalabi A, Leigh PN, Blair IP, Nicholson G(2009)
FUS_000013
-
?
?
ALS
"
Vance C1, Rogelj B, Hortobágyi T, De Vos KJ, Nishimura AL, Sreedharan J, Hu X, Smith B, Ruddy D, Wright P, Ganesalingam J, Williams KL, Tripathi V, Al-Saraj S, Al-Chalabi A(2009)
-
-
1
Y Yang
?/.
14
c.1540A>G
r.(?)
p.(Arg514Gly)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
Unknown
g.31202430A>G
Waibel S1, Neumann M, Rosenbohm A, Birve A, Volk AE, Weishaupt JH, Meyer T, Müller U, Andersen PM, Ludolph AC.(2013)
FUS_000013
-
?
?
ALS
Waibel S, Neumann M, Rosenbohm A, Birve A, Volk AE, Weishaupt JH, Meyer T, Müller U, Andersen PM, Ludolph AC.(2013)
Germany
-
1
Y Yang
?/.
14i
c.1541+1G>A
r.spl?
p.?
-
-
Unknown
g.31202432G>A
Feng Wang, et al. (2020)
FUS_000074
-
?
?
ALS
Feng Wang, et al. (2020)
Chinese
-
1
XY Liu
?/.
14i
c.1542-1G>T
r.spl?
p.?
-
-
Unknown
g.31202719G>T
Antonio Canosa, et al. (2022)
FUS_000075
-
?
?
ALS
Antonio Canosa, et al. (2022)
-
-
1
XY Liu
?/.
15
c.1542G>C
r.(?)
p.(Arg514Ser)
-
-
Unknown
g.31202720G>C
Adriano Chiò, Gabriella Restagno, Maura Brunetti, et al.
FUS_000039
-
?
?
ALS
Adriano Chiò, Gabriella Restagno, Maura Brunetti, et al.
Italian
-
1
XY Liu
./.
15
c.1542G>T
r.(?)
p.(Arg514Ser)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
Unknown
g.31202720G>T
Kwiatkowski TJ Jr1, Bosco DA, Leclerc AL, Tamrazian E, Vanderburg CR, Russ C, Davis A, Gilchrist J, Kasarskis EJ, Munsat T, Valdmanis P, Rouleau GA, Hosler BA, Cortelli P, de Jong PJ, Yoshinaga Y, Haines JL, Pericak-Vance MA, Yan J(2009)
FUS_000003
-
?
?
ALS
"
Kwiatkowski TJ Jr1, Bosco DA, Leclerc AL, Tamrazian E, Vanderburg CR, Russ C, Davis A, Gilchrist J, Kasarskis EJ, Munsat T, Valdmanis P, Rouleau GA, Hosler BA, Cortelli P(2009)
-
-
1
Y Yang
./.
15
c.1542G>T
r.(?)
p.(Arg514Ser)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
Unknown
g.31202720G>T
Robertson J1, Bilbao J, Zinman L, Hazrati LN, Tokuhiro S, Sato C, Moreno D, Strome R, Mackenzie IR, Rogaeva E.(2011)
FUS_000003
-
?
?
ALS
Robertson J1, Bilbao J, Zinman L, Hazrati LN, Tokuhiro S, Sato C, Moreno D, Strome R, Mackenzie IR, Rogaeva E.(2011)
-
-
1
Y Yang
./.
15
c.1542G>T
r.(?)
p.(Arg514Ser)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
Unknown
g.31202720G>T
Yamashita S1, Mori A, Sakaguchi H, Suga T, Ishihara D, Ueda A, Yamashita T, Maeda Y, Uchino M, Hirano T.(2012)
FUS_000003
-
?
?
ALS
Yamashita S1, Mori A, Sakaguchi H, Suga T, Ishihara D, Ueda A, Yamashita T, Maeda Y, Uchino M, Hirano T.(2012)
-
-
1
Y Yang
./.
15
c.1543G>T
r.(?)
p.(Gly515Cys)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
Unknown
g.31202721G>T
Kwiatkowski TJ Jr1, Bosco DA, Leclerc AL, Tamrazian E, Vanderburg CR, Russ C, Davis A, Gilchrist J, Kasarskis EJ, Munsat T, Valdmanis P, Rouleau GA, Hosler BA, Cortelli P, de Jong PJ, Yoshinaga Y, Haines JL, Pericak-Vance MA, Yan J(2009)
FUS_000004
-
?
?
ALS
"
Kwiatkowski TJ Jr1, Bosco DA, Leclerc AL, Tamrazian E, Vanderburg CR, Russ C, Davis A, Gilchrist J, Kasarskis EJ, Munsat T, Valdmanis P, Rouleau GA, Hosler BA, Cortelli P(2009)
-
-
1
Y Yang
?/.
15
c.1544del
r.(?)
p.(Gly515Valfs*14)
-
-
Unknown
g.31202722del
Z-J Liu, et al. (2017)
FUS_000066
-
?
?
ALS
Z-J Liu, et al. (2017)
Chinese
-
1
XY Liu
./.
15
c.1547A>T
r.(?)
p.(Glu516Val)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
Unknown
g.31202725A>T
Robertson J1, Bilbao J, Zinman L, Hazrati LN, Tokuhiro S, Sato C, Moreno D, Strome R, Mackenzie IR, Rogaeva E.(2011)
FUS_000016
-
?
?
ALS
Robertson J1, Bilbao J, Zinman L, Hazrati LN, Tokuhiro S, Sato C, Moreno D, Strome R, Mackenzie IR, Rogaeva E.(2011)
-
-
1
Y Yang
./.
15
c.1549C>G
r.(?)
p.(His517Asp)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
Unknown
g.31202727C>G
Tsai CP1, Soong BW, Lin KP, Tu PH, Lin JL, Lee YC.(2011)
FUS_000015
-
?
?
ALS
Tsai CP1, Soong BW, Lin KP, Tu PH, Lin JL, Lee YC.(2011)
Taiwanese
-
1
Y Yang
?/.
15
c.1550A>C
r.(?)
p.(His517Pro)
-
-
Unknown
g.31202728A>C
Naoki Suzuki, Masashi Aoki, Hitoshi Warita, et al.
FUS_000049
-
?
?
ALS
Naoki Suzuki, Masashi Aoki, Hitoshi Warita, et al.
Japanese
-
1
XY Liu
./.
15
c.1551C>A
r.(?)
p.(His517Gln)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
Unknown
g.31202729C>A
Kwiatkowski TJ Jr1, Bosco DA, Leclerc AL, Tamrazian E, Vanderburg CR, Russ C, Davis A, Gilchrist J, Kasarskis EJ, Munsat T, Valdmanis P, Rouleau GA, Hosler BA, Cortelli P, de Jong PJ, Yoshinaga Y, Haines JL, Pericak-Vance MA, Yan J(2009)
FUS_000005
-
?
?
ALS
"
Kwiatkowski TJ Jr1, Bosco DA, Leclerc AL, Tamrazian E, Vanderburg CR, Russ C, Davis A, Gilchrist J, Kasarskis EJ, Munsat T, Valdmanis P, Rouleau GA, Hosler BA, Cortelli P(2009)
-
-
1
Y Yang
./.
15
c.1551C>A
r.(?)
p.(His517Gln)
-
-
Unknown
g.31202729C>A
Gromicho M et al. (2017)
FUS_000005
-
?
?
ALS
Gromicho M et al. (2017)
-
-
1
XY Liu
./.
15
c.1553G>A
r.(?)
p.(Arg518Lys)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
Unknown
g.31202731G>A
Kwiatkowski TJ Jr1, Bosco DA, Leclerc AL, Tamrazian E, Vanderburg CR, Russ C, Davis A, Gilchrist J, Kasarskis EJ, Munsat T, Valdmanis P, Rouleau GA, Hosler BA, Cortelli P, de Jong PJ, Yoshinaga Y, Haines JL, Pericak-Vance MA, Yan J(2009)
FUS_000006
-
?
?
ALS
"
Kwiatkowski TJ Jr1, Bosco DA, Leclerc AL, Tamrazian E, Vanderburg CR, Russ C, Davis A, Gilchrist J, Kasarskis EJ, Munsat T, Valdmanis P, Rouleau GA, Hosler BA, Cortelli P(2009)
-
-
1
Y Yang
?/.
15
c.1554_1557del
r.(?)
p.(Gln519Ilefs*9)
-
-
Unknown
g.31202732_31202735del
D Bäumer, D Hilton, S M L Paine, M R Turner, J Lowe, K Talbot, O Ansorge
FUS_000051
-
?
?
ALS
D Bäumer, D Hilton, S M L Paine, M R Turner, J Lowe, K Talbot, O Ansorge
-
-
1
XY Liu
./.
15
c.1555C>G
r.(?)
p.(Gln519Glu)
-
-
Unknown
g.31202733C>G
Lim SM et al. (2016)
FUS_000033
-
?
?
ALS
Lim SM et al. (2016)
-
-
1
XY Liu
./.
15
c.1561C>A
r.(?)
p.(Arg521Ser)
-
-
Unknown
g.31202739C>A
McCann EP et al. (2017)
FUS_000037
-
?
?
ALS
McCann EP et al. (2017)
Australian
-
1
XY Liu
?/.
15
c.1561C>A
r.(?)
p.(Arg521Ser)
-
-
Unknown
g.31202739C>A
Stéphanie Millecamps, François Salachas, Cécile Cazeneuve, et al.
FUS_000037
-
?
?
ALS
Stéphanie Millecamps, François Salachas, Cécile Cazeneuve, et al.
-
-
1
XY Liu
./.
15
c.1561C>G
r.(?)
p.(Arg521Gly)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
Unknown
g.31202739C>G
Kwiatkowski TJ Jr1, Bosco DA, Leclerc AL, Tamrazian E, Vanderburg CR, Russ C, Davis A, Gilchrist J, Kasarskis EJ, Munsat T, Valdmanis P, Rouleau GA, Hosler BA, Cortelli P, de Jong PJ, Yoshinaga Y, Haines JL, Pericak-Vance MA, Yan J(2009)
FUS_000007
-
?
?
ALS
"
Kwiatkowski TJ Jr1, Bosco DA, Leclerc AL, Tamrazian E, Vanderburg CR, Russ C, Davis A, Gilchrist J, Kasarskis EJ, Munsat T, Valdmanis P, Rouleau GA, Hosler BA, Cortelli P(2009)
-
-
1
Y Yang
./.
15
c.1561C>G
r.(?)
p.(Arg521Gly)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
Unknown
g.31202739C>G
Sproviero W1, La Bella V, Mazzei R, Valentino P, Rodolico C, Simone IL, Logroscino G, Ungaro C, Magariello A, Patitucci A, Tedeschi G, Spataro R, Condino F, Bono F, Citrigno L, Monsurrò MR, Muglia M, Gambardella A, Quattrone A(2012)
FUS_000007
-
?
?
ALS
Sproviero W, La Bella V, Mazzei R, Valentino P, Rodolico C, Simone IL, Logroscino G, Ungaro C, Magariello A, Patitucci A, Tedeschi G, Spataro R, Condino F, Bono F, Citrigno L (2012)
-
-
1
Y Yang
./.
15
c.1561C>G
r.(?)
p.(Arg521Gly)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
Unknown
g.31202739C>G
Mochizuki Y1, Kawata A, Hashimoto T, Akiyama H, Kawakami H, Komori T, Oyanagi K, Mizutani T, Matsubara S.(2014)
FUS_000007
-
?
?
ALS
Mochizuki Y1, Kawata A, Hashimoto T, Akiyama H, Kawakami H, Komori T, Oyanagi K, Mizutani T, Matsubara S.(2014)
-
-
1
Y Yang
?/.
15
c.1561C>G
r.(?)
p.(Arg521Gly)
-
-
Unknown
g.31202739C>G
Zhang-Yu Zou, Li-Ying Cui, Qing Sun, Xiao-Guang Li, Ming-Sheng Liu, Yan Xu, Yan Zhou, Xun-Zhe Yang (2013)
FUS_000007
-
?
?
ALS
Zhang-Yu Zou, Li-Ying Cui, Qing Sun, Xiao-Guang Li, Ming-Sheng Liu, Yan Xu, Yan Zhou, Xun-Zhe Yang (2013)
Chinese
-
1
XY Liu
+/.
15
c.1561C>G
r.(?)
p.(Arg521Gly)
-
-
Unknown
g.31202739C>G
C M Flies, J H Veldink (2020)
FUS_000007
-
?
?
ALS
C M Flies, J H Veldink (2020)
-
-
1
XY Liu
./.
15
c.1561C>T
r.(?)
p.(Arg521Cys)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
VariO:0021 amino acid substitution
Unknown
g.31202739C>T
Drepper C1, Herrmann T, Wessig C, Beck M, Sendtner M.(2001)
FUS_000014
-
?
?
ALS
Drepper C, Herrmann T, Wessig C, Beck M, Sendtner M.(2001)
Germany
-
1
Y Yang
./.
15
c.1561C>T
r.(?)
p.(Arg521Cys)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
VariO:0021 amino acid substitution
Unknown
g.31202739C>T
Chiò A1, Calvo A, Moglia C, Ossola I, Brunetti M, Sbaiz L, Lai SL, Abramzon Y, Traynor BJ, Restagno G.(2011)
FUS_000014
-
?
?
ALS
Chiò A1, Calvo A, Moglia C, Ossola I, Brunetti M, Sbaiz L, Lai SL, Abramzon Y, Traynor BJ, Restagno G.(2011)
-
-
1
Y Yang
./.
15
c.1561C>T
r.(?)
p.(Arg521Cys)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
VariO:0021 amino acid substitution
Unknown
g.31202739C>T
Sproviero W1, La Bella V, Mazzei R, Valentino P, Rodolico C, Simone IL, Logroscino G, Ungaro C, Magariello A, Patitucci A, Tedeschi G, Spataro R, Condino F, Bono F, Citrigno L, Monsurrò MR, Muglia M, Gambardella A, Quattrone A(2012)
FUS_000014
-
?
?
ALS
Sproviero W, La Bella V, Mazzei R, Valentino P, Rodolico C, Simone IL, Logroscino G, Ungaro C, Magariello A, Patitucci A, Tedeschi G, Spataro R, Condino F, Bono F, Citrigno L (2012)
-
-
1
Y Yang
./.
15
c.1561C>T
r.(?)
p.(Arg521Cys)
-
-
Unknown
g.31202739C>T
McCann EP et al. (2017)
FUS_000014
-
?
?
ALS
McCann EP et al. (2017)
Australian
-
1
XY Liu
?/.
15
c.1561C>T
r.(?)
p.(Arg521Cys)
-
-
Unknown
g.31202739C>T
Lucia Corrado, Roberto Del Bo, Barbara Castellotti, et al.
FUS_000014
-
?
?
ALS
Lucia Corrado, Roberto Del Bo, Barbara Castellotti, et al.
Italian
-
1
XY Liu
?/.
15
c.1561C>T
r.(?)
p.(Arg521Cys)
-
-
Unknown
g.31202739C>T
P Van Damme, A Goris, V Race, N Hersmus, B Dubois, L Van Den Bosch, G Matthijs, W Robberecht
FUS_000014
-
?
?
ALS
P Van Damme, A Goris, V Race, N Hersmus, B Dubois, L Van Den Bosch, G Matthijs, W Robberecht
Belgian
-
1
XY Liu
+/.
15
c.1561C>T
r.(?)
p.(Arg521Cys)
-
-
Unknown
g.31202739C>T
Takahisa Tateishi, Toshihiro Hokonohara, Ryo Yamasaki, et al.
FUS_000014
-
?
?
ALS
Takahisa Tateishi, Toshihiro Hokonohara, Ryo Yamasaki, et al.
Japanese
-
1
XY Liu
?/.
15
c.1561C>T
r.(?)
p.(Arg521Cys)
-
-
Unknown
g.31202739C>T
Ewout J N Groen, Michael A van Es, Paul W J van Vught, et al.
FUS_000014
-
?
?
ALS
Ewout J N Groen, Michael A van Es, Paul W J van Vught, et al.
Dutch
-
1
XY Liu
?/.
15
c.1561C>T
r.(?)
p.(Arg521Cys)
-
-
Unknown
g.31202739C>T
Naoki Suzuki, Masashi Aoki, Hitoshi Warita, et al.
FUS_000014
-
?
?
ALS
Naoki Suzuki, Masashi Aoki, Hitoshi Warita, et al.
Japanese
-
1
XY Liu
?/.
15
c.1561C>T
r.(?)
p.(Arg521Cys)
-
-
Unknown
g.31202739C>T
Rosa Rademakers, Heather Stewart, Mariely Dejesus-Hernandez, et al.
FUS_000014
-
?
?
ALS
Rosa Rademakers, Heather Stewart, Mariely Dejesus-Hernandez, et al.
-
-
1
XY Liu
?/.
15
c.1561C>T
r.(?)
p.(Arg521Cys)
-
-
Unknown
g.31202739C>T
Yukiko Yamamoto-Watanabe, Mitsunori Watanabe, Koichi Okamoto, et al.
FUS_000014
-
?
?
ALS
Yukiko Yamamoto-Watanabe, Mitsunori Watanabe, Koichi Okamoto, et al.
Japanese
-
1
XY Liu
?/.
15
c.1561C>T
r.(?)
p.(Arg521Cys)
-
-
Unknown
g.31202739C>T
Masashi Aoki, Hitoshi Warita, Naoki Suzuki, Masaaki Kato (2012)
FUS_000014
-
?
?
ALS
Masashi Aoki, Hitoshi Warita, Naoki Suzuki, Masaaki Kato (2012)
Japanese
-
1
XY Liu
+/.
15
c.1561C>T
r.(?)
p.(Arg521Cys)
-
-
Unknown
g.31202739C>T
Mario Sabatelli, Alice Moncada, Amelia Conte, et al. (2013)
FUS_000014
-
?
?
ALS
Mario Sabatelli, Alice Moncada, Amelia Conte, et al. (2013)
-
-
1
XY Liu
?/.
15
c.1561C>T
r.(?)
p.(Arg521Cys)
-
-
Unknown
g.31202739C>T
Zhang-Yu Zou, et al. (2021)
FUS_000014
-
?
?
ALS
Zhang-Yu Zou, et al. (2021)
-
-
1
XY Liu
./.
15
c.1562G>A
r.(?)
p.(Arg521His)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
Unknown
g.31202740G>A
Kwiatkowski TJ Jr1, Bosco DA, Leclerc AL, Tamrazian E, Vanderburg CR, Russ C, Davis A, Gilchrist J, Kasarskis EJ, Munsat T, Valdmanis P, Rouleau GA, Hosler BA, Cortelli P, de Jong PJ, Yoshinaga Y, Haines JL, Pericak-Vance MA, Yan J(2009)
FUS_000008
-
?
?
ALS
"
Kwiatkowski TJ Jr1, Bosco DA, Leclerc AL, Tamrazian E, Vanderburg CR, Russ C, Davis A, Gilchrist J, Kasarskis EJ, Munsat T, Valdmanis P, Rouleau GA, Hosler BA, Cortelli P(2009)
-
-
1
Y Yang
./.
15
c.1562G>A
r.(?)
p.(Arg521His)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
Unknown
g.31202740G>A
Tsai CP1, Soong BW, Lin KP, Tu PH, Lin JL, Lee YC.(2011)
FUS_000008
-
?
?
ALS
Tsai CP, Soong BW, Lin KP, Tu PH, Lin JL, Lee YC.(2011)
Taiwanese
-
1
Y Yang
./.
15
c.1562G>A
r.(?)
p.(Arg521His)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
Unknown
g.31202740G>A
Zou ZY1, Peng Y, Feng XH, Wang XN, Sun Q, Liu MS, Li XG, Cui LY.(2012)
FUS_000008
-
?
?
ALS
Zou ZY1, Peng Y, Feng XH, Wang XN, Sun Q, Liu MS, Li XG, Cui LY.(2012)
Chinese
-
1
Y Yang
./.
15
c.1562G>A
r.(?)
p.(Arg521His)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
Unknown
g.31202740G>A
Waibel S1, Neumann M, Rosenbohm A, Birve A, Volk AE, Weishaupt JH, Meyer T, Müller U, Andersen PM, Ludolph AC.(2013)
FUS_000008
-
?
?
ALS
Waibel S, Neumann M, Rosenbohm A, Birve A, Volk AE, Weishaupt JH, Meyer T, Müller U, Andersen PM, Ludolph AC.(2013)
Germany
-
1
Y Yang
./.
15
c.1562G>A
r.(?)
p.(Arg521His)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
VariO:0021 amino acid substitution
Unknown
g.31202740G>A
Broustal O1, Camuzat A, Guillot-No?l L, Guy N, Millecamps S, Deffond D, Lacomblez L, Golfier V, Hannequin D, Salachas F, Camu W, Didic M, Dubois B, Meininger V, Le Ber I, Brice A(2010)
FUS_000008
-
?
?
FTLD
"
Broustal O1, Camuzat A, Guillot-No?l L, Guy N, Millecamps S, Deffond D, Lacomblez L, Golfier V, Hannequin D, Salachas F, Camu W, Didic M, Dubois B, Meininger V, Le Ber I(2010)
-
-
1
Y Yang
./.
15
c.1562G>A
r.(?)
p.(Arg521His)
-
-
Unknown
g.31202740G>A
Hou L et al. (2016)
FUS_000008
-
?
?
ALS
Hou L et al. (2016)
Chinese
-
1
XY Liu
./.
15
c.1562G>A
r.(?)
p.(Arg521His)
-
-
Unknown
g.31202740G>A
McCann EP et al. (2017)
FUS_000008
-
?
?
ALS
McCann EP et al. (2017)
Australian
-
1
XY Liu
?/.
15
c.1562G>A
r.(?)
p.(Arg521His)
-
-
Unknown
g.31202740G>A
Ewout J N Groen, Michael A van Es, Paul W J van Vught, et al.
FUS_000008
-
?
?
ALS
Ewout J N Groen, Michael A van Es, Paul W J van Vught, et al.
Dutch
-
1
XY Liu
?/.
15
c.1562G>A
r.(?)
p.(Arg521His)
-
-
Unknown
g.31202740G>A
Oriane Broustal, Agnès Camuzat, Lena Guillot-Noël, et al.
FUS_000008
-
?
?
ALS, FTLD
Oriane Broustal, Agnès Camuzat, Lena Guillot-Noël, et al.
-
-
1
XY Liu
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