NDDVD - Neurodegenerative Diseases Variation Database
FUS (FUS RNA binding protein)
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Curator:
Y Yang
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All variants in the FUS gene
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).
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
DNA change (genomic) (hg19)
Reference
DB-ID
Frequency
Owner
?/.
2
c.122A>G
r.(?)
p.(Tyr41Cys)
-
-
g.31193917A>G
Cinzia Bertolin, Carla D'Ascenzo, Giorgia Querin, et al. (2014)
FUS_000063
-
XY Liu
./.
3
c.175_176insGG
r.(?)
p.(Gln60Alafs*126)
VariO:0142 DNA insertion
VariO:0023 amphigoric amino acid indel
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
-
Y Yang
?/.
5
c.419A>G
r.(?)
p.(Gln140Arg)
-
-
g.31195613A>G
Zhang-Yu Zou, et al. (2021)
FUS_000073
-
XY Liu
./.
5
c.420G>T
r.(?)
p.(Gln140His)
-
-
g.31195614G>T
Ferrer I et al. (2015)
FUS_000038
-
XY Liu
?/.
5
c.453C>T
r.(=)
p.(=)
-
-
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
-
XY Liu
./.
5i
c.523+3_523+4insGAGGTG
r.spl?
p.?
VariO:0142 DNA insertion
-
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
-
Y Yang
?/.
6
c.559G>A
r.(?)
p.(Gly187Ser)
-
-
g.31196295G>A
Rosa Rademakers, Heather Stewart, Mariely Dejesus-Hernandez, et al.
FUS_000050
-
XY Liu
?/.
6
c.571G>A
r.(?)
p.(Gly191Ser)
-
-
g.31196307G>A
Lucia Corrado, Roberto Del Bo, Barbara Castellotti, et al.
FUS_000040
-
XY Liu
?/.
6
c.646C>T
r.(?)
p.(Arg216Cys)
-
-
g.31196382C>T
Lucia Corrado, Roberto Del Bo, Barbara Castellotti, et al.
FUS_000041
-
XY Liu
?/.
6
c.648C>T
r.(=)
p.(=)
-
-
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
-
XY Liu
?/.
6
c.674G>T
r.(?)
p.(Gly225Val)
-
-
g.31196410G>T
Lucia Corrado, Roberto Del Bo, Barbara Castellotti, et al.
FUS_000042
-
XY Liu
?/.
6
c.688G>T
r.(?)
p.(Gly230Cys)
-
-
g.31196424G>T
Lucia Corrado, Roberto Del Bo, Barbara Castellotti, et al.
FUS_000043
-
XY Liu
?/.
6
c.700C>T
r.(?)
p.(Arg234Cys)
-
-
g.31196436C>T
Lucia Corrado, Roberto Del Bo, Barbara Castellotti, et al.
FUS_000044
-
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
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
-
Y Yang
./.
6
c.734G>T
r.(?)
p.(Gly245Val)
-
-
g.31196470G>T
26176978 et al. (2015)
FUS_000030
-
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
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
-
Y Yang
?/.
13
c.1385C>T
r.(?)
p.(Ser462Phe)
-
-
g.31202155C>T
Ewout J N Groen, Michael A van Es, Paul W J van Vught, et al.
FUS_000046
-
XY Liu
./.
13
c.1392G>T
r.(?)
p.(Met464Ile)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
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
-
Y Yang
?/.
13i
c.1393+34G>C
r.(=)
p.(=)
-
-
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
-
XY Liu
./.
13i
c.1394-2A>G
r.spl?
p.?
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition
-
g.31202282A>G
Kim YE1, Oh KW2, Kwon MJ3, Choi WJ2, Oh SI4, Ki CS5, Kim SH6.(2015
FUS_000028
-
Y Yang
+/.
13i
c.1394-2A>G
r.spl?
p.G466VfsX14
-
-
g.31202282A>G
Mariely DeJesus-Hernandez, Jannet Kocerha, NiCole Finch, et al.
FUS_000028
-
XY Liu
?/.
14
c.1432_1478del
r.(?)
p.(Gly478Leufs*23)
-
-
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
-
XY Liu
?/.
14
c.1456_1457del
r.(?)
p.(Gly486Profs*30)
-
-
g.31202346_31202347del
Z-J Liu, et al. (2017)
FUS_000067
-
XY Liu
?/.
14
c.1464C>T
r.(=)
p.(=)
-
-
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
-
XY Liu
./.
14
c.1475delG
r.(?)
p.(Gly492Glufs*37)
VariO:0141 DNA deletion
VariO:0023 amphigoric amino acid indel
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
-
Y Yang
./.
14
c.1483C>T
r.(?)
p.(Arg495*)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
VariO:0015 protein truncation
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
-
Y Yang
./.
14
c.1483C>T
r.(?)
p.(Arg495*)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
VariO:0015 protein truncation
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
-
Y Yang
./.
14
c.1483C>T
r.(?)
p.(Arg495*)
VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition
VariO:0015 protein truncation
g.31202373C>T
Kim YE1, Oh KW2, Kwon MJ3, Choi WJ2, Oh SI4, Ki CS5, Kim SH6.(2015
FUS_000021
-
Y Yang
./.
14
c.1483C>T
r.(?)
p.(Arg495*)
-
-
g.31202373C>T
Lim SM et al. (2016)
FUS_000021
-
XY Liu
?/.
14
c.1483C>T
r.(?)
p.(Arg495*)
-
-
g.31202373C>T
S Waibel, M Neumann, M Rabe, T Meyer, A C Ludolph
FUS_000021
-
XY Liu
?/.
14
c.1483C>T
r.(?)
p.(Arg495*)
-
-
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
-
XY Liu
?/.
14
c.1483C>T
r.(?)
p.(Arg495*)
-
-
g.31202373C>T
Xiaolong Yu, et al. (2018)
FUS_000021
-
XY Liu
?/.
14
c.1483C>T
r.(?)
p.(Arg495*)
-
-
g.31202373C>T
Katherine Claire Dodd, et al. (2019)
FUS_000021
-
XY Liu
?/.
14
c.1486del
r.(?)
p.(Gly497Alafs*32)
-
-
g.31202376del
Cinzia Bertolin, Carla D'Ascenzo, Giorgia Querin, et al. (2014)
FUS_000064
-
XY Liu
?/.
14
c.1489_1490dup
r.(?)
p.(Arg498Alafs*32)
-
-
g.31202379_31202380dup
Z-J Liu, et al. (2017)
FUS_000068
-
XY Liu
?/.
14
c.1504del
r.(?)
p.(Asp502Thrfs*27)
-
-
g.31202394del
Annemarie Hübers, Walter Just, Angela Rosenbohm et al. (2015)
FUS_000065
-
XY Liu
./.
14
c.1507_1508delAG
r.(?)
p.(?)
-
-
g.31202397_31202398delAG
Hirayanagi K et al. (2016)
FUS_000034
-
XY Liu
?/.
14
c.1509dup
r.(?)
p.(Gly504Argfs*13)
-
-
g.31202399dup
Li Chen, et al. (2020)
FUS_000070
-
XY Liu
?/.
14
c.1509dup
r.(?)
p.(Gly504Argfs*13)
-
-
g.31202399dup
Li Chen, et al. (2020)
FUS_000070
-
XY Liu
?/.
14
c.1509_1510del
r.(?)
p.(Gly504Trpfs*12)
-
-
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
-
XY Liu
+/.
14
c.1509_1510del
r.(?)
p.(Gly504Trpfs*12)
-
-
g.31202399_31202400del
Paola Lanteri, et al. (2021)
FUS_000057
-
XY Liu
?/.
14
c.1510dup
r.(?)
p.(Gly505Trpfs*12)
-
-
g.31202400dup
Xiaolong Yu, et al. (2018)
FUS_000069
-
XY Liu
+/.
14
c.1520del
r.(?)
p.(Gly507Alafs*22)
-
-
g.31202410del
Ying Wu, et al. (2022)
FUS_000076
-
XY Liu
?/.
14
c.1520G>A
r.(?)
p.(Gly507Asp)
-
-
g.31202410G>A
Lucia Corrado, Roberto Del Bo, Barbara Castellotti, et al.
FUS_000045
-
XY Liu
+/.
14
c.1520G>A
r.(?)
p.(Gly507Asp)
-
-
g.31202410G>A
Ilaria Martinelli, et al. (2022)
FUS_000045
-
XY Liu
./.
14
c.1526G>A
r.(?)
p.(Gly509Asp)
-
-
g.31202416G>A
26176978 et al. (2015)
FUS_000031
-
XY Liu
?/.
14
c.1528A>G
r.(?)
p.(Lys510Glu)
-
-
g.31202418A>G
Naoki Suzuki, Masashi Aoki, Hitoshi Warita, et al.
FUS_000048
-
XY Liu
?/.
14
c.1528A>G
r.(?)
p.(Lys510Glu)
-
-
g.31202418A>G
Andrew King, Claire Troakes, Bradley Smith et al. (2015)
FUS_000048
-
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
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
-
Y Yang
?/.
14
c.1529A>G
r.(?)
p.(Lys510Arg)
-
-
g.31202419A>G
S Waibel, M Neumann, M Rabe, T Meyer, A C Ludolph
FUS_000020
-
XY Liu
./.
14
c.1529A>T
r.(?)
p.(Lys510Met)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
g.31202419A>T
Mochizuki Y1, Kawata A, Maruyama H, Homma T, Watabe K, Kawakami H, Komori T, Mizutani T, Matsubara S.(2014)
FUS_000022
-
Y Yang
?/.
14
c.1537T>C
r.(?)
p.(Ser513Pro)
-
-
g.31202427T>C
Naoki Suzuki, Masashi Aoki, Hitoshi Warita, et al.
FUS_000047
-
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
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
-
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
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
-
Y Yang
?/.
14i
c.1541+1G>A
r.spl?
p.?
-
-
g.31202432G>A
Feng Wang, et al. (2020)
FUS_000074
-
XY Liu
?/.
14i
c.1542-1G>T
r.spl?
p.?
-
-
g.31202719G>T
Antonio Canosa, et al. (2022)
FUS_000075
-
XY Liu
?/.
15
c.1542G>C
r.(?)
p.(Arg514Ser)
-
-
g.31202720G>C
Adriano Chiò, Gabriella Restagno, Maura Brunetti, et al.
FUS_000039
-
XY Liu
./.
15
c.1542G>T
r.(?)
p.(Arg514Ser)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
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
-
Y Yang
./.
15
c.1542G>T
r.(?)
p.(Arg514Ser)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
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
-
Y Yang
./.
15
c.1542G>T
r.(?)
p.(Arg514Ser)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
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
-
Y Yang
./.
15
c.1543G>T
r.(?)
p.(Gly515Cys)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
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
-
Y Yang
?/.
15
c.1544del
r.(?)
p.(Gly515Valfs*14)
-
-
g.31202722del
Z-J Liu, et al. (2017)
FUS_000066
-
XY Liu
./.
15
c.1547A>T
r.(?)
p.(Glu516Val)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
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
-
Y Yang
./.
15
c.1549C>G
r.(?)
p.(His517Asp)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
g.31202727C>G
Tsai CP1, Soong BW, Lin KP, Tu PH, Lin JL, Lee YC.(2011)
FUS_000015
-
Y Yang
?/.
15
c.1550A>C
r.(?)
p.(His517Pro)
-
-
g.31202728A>C
Naoki Suzuki, Masashi Aoki, Hitoshi Warita, et al.
FUS_000049
-
XY Liu
./.
15
c.1551C>A
r.(?)
p.(His517Gln)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
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
-
Y Yang
./.
15
c.1551C>A
r.(?)
p.(His517Gln)
-
-
g.31202729C>A
Gromicho M et al. (2017)
FUS_000005
-
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
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
-
Y Yang
?/.
15
c.1554_1557del
r.(?)
p.(Gln519Ilefs*9)
-
-
g.31202732_31202735del
D Bäumer, D Hilton, S M L Paine, M R Turner, J Lowe, K Talbot, O Ansorge
FUS_000051
-
XY Liu
./.
15
c.1555C>G
r.(?)
p.(Gln519Glu)
-
-
g.31202733C>G
Lim SM et al. (2016)
FUS_000033
-
XY Liu
./.
15
c.1561C>A
r.(?)
p.(Arg521Ser)
-
-
g.31202739C>A
McCann EP et al. (2017)
FUS_000037
-
XY Liu
?/.
15
c.1561C>A
r.(?)
p.(Arg521Ser)
-
-
g.31202739C>A
Stéphanie Millecamps, François Salachas, Cécile Cazeneuve, et al.
FUS_000037
-
XY Liu
./.
15
c.1561C>G
r.(?)
p.(Arg521Gly)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
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
-
Y Yang
./.
15
c.1561C>G
r.(?)
p.(Arg521Gly)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
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
-
Y Yang
./.
15
c.1561C>G
r.(?)
p.(Arg521Gly)
VariO:0136 DNA substitution; VariO:0316 transversion
VariO:0021 amino acid substitution
g.31202739C>G
Mochizuki Y1, Kawata A, Hashimoto T, Akiyama H, Kawakami H, Komori T, Oyanagi K, Mizutani T, Matsubara S.(2014)
FUS_000007
-
Y Yang
?/.
15
c.1561C>G
r.(?)
p.(Arg521Gly)
-
-
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
-
XY Liu
+/.
15
c.1561C>G
r.(?)
p.(Arg521Gly)
-
-
g.31202739C>G
C M Flies, J H Veldink (2020)
FUS_000007
-
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
g.31202739C>T
Drepper C1, Herrmann T, Wessig C, Beck M, Sendtner M.(2001)
FUS_000014
-
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
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
-
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
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
-
Y Yang
./.
15
c.1561C>T
r.(?)
p.(Arg521Cys)
-
-
g.31202739C>T
McCann EP et al. (2017)
FUS_000014
-
XY Liu
?/.
15
c.1561C>T
r.(?)
p.(Arg521Cys)
-
-
g.31202739C>T
Lucia Corrado, Roberto Del Bo, Barbara Castellotti, et al.
FUS_000014
-
XY Liu
?/.
15
c.1561C>T
r.(?)
p.(Arg521Cys)
-
-
g.31202739C>T
P Van Damme, A Goris, V Race, N Hersmus, B Dubois, L Van Den Bosch, G Matthijs, W Robberecht
FUS_000014
-
XY Liu
+/.
15
c.1561C>T
r.(?)
p.(Arg521Cys)
-
-
g.31202739C>T
Takahisa Tateishi, Toshihiro Hokonohara, Ryo Yamasaki, et al.
FUS_000014
-
XY Liu
?/.
15
c.1561C>T
r.(?)
p.(Arg521Cys)
-
-
g.31202739C>T
Ewout J N Groen, Michael A van Es, Paul W J van Vught, et al.
FUS_000014
-
XY Liu
?/.
15
c.1561C>T
r.(?)
p.(Arg521Cys)
-
-
g.31202739C>T
Naoki Suzuki, Masashi Aoki, Hitoshi Warita, et al.
FUS_000014
-
XY Liu
?/.
15
c.1561C>T
r.(?)
p.(Arg521Cys)
-
-
g.31202739C>T
Rosa Rademakers, Heather Stewart, Mariely Dejesus-Hernandez, et al.
FUS_000014
-
XY Liu
?/.
15
c.1561C>T
r.(?)
p.(Arg521Cys)
-
-
g.31202739C>T
Yukiko Yamamoto-Watanabe, Mitsunori Watanabe, Koichi Okamoto, et al.
FUS_000014
-
XY Liu
?/.
15
c.1561C>T
r.(?)
p.(Arg521Cys)
-
-
g.31202739C>T
Masashi Aoki, Hitoshi Warita, Naoki Suzuki, Masaaki Kato (2012)
FUS_000014
-
XY Liu
+/.
15
c.1561C>T
r.(?)
p.(Arg521Cys)
-
-
g.31202739C>T
Mario Sabatelli, Alice Moncada, Amelia Conte, et al. (2013)
FUS_000014
-
XY Liu
?/.
15
c.1561C>T
r.(?)
p.(Arg521Cys)
-
-
g.31202739C>T
Zhang-Yu Zou, et al. (2021)
FUS_000014
-
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
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
-
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
g.31202740G>A
Tsai CP1, Soong BW, Lin KP, Tu PH, Lin JL, Lee YC.(2011)
FUS_000008
-
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
g.31202740G>A
Zou ZY1, Peng Y, Feng XH, Wang XN, Sun Q, Liu MS, Li XG, Cui LY.(2012)
FUS_000008
-
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
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
-
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
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
-
Y Yang
./.
15
c.1562G>A
r.(?)
p.(Arg521His)
-
-
g.31202740G>A
Hou L et al. (2016)
FUS_000008
-
XY Liu
./.
15
c.1562G>A
r.(?)
p.(Arg521His)
-
-
g.31202740G>A
McCann EP et al. (2017)
FUS_000008
-
XY Liu
?/.
15
c.1562G>A
r.(?)
p.(Arg521His)
-
-
g.31202740G>A
Ewout J N Groen, Michael A van Es, Paul W J van Vught, et al.
FUS_000008
-
XY Liu
?/.
15
c.1562G>A
r.(?)
p.(Arg521His)
-
-
g.31202740G>A
Oriane Broustal, Agnès Camuzat, Lena Guillot-Noël, et al.
FUS_000008
-
XY Liu
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