| Gene | TARDBP |
| Gene name | TAR DNA binding protein |
| Number variants ALSoD | 69 |
| Number people with mutation ALSoD | 108 |
| Number of papers ALSoD | 38 |
| Chromosomal location | 1p36.22 |
| Protein | TAR DNA-binding protein 43 |
| Discovery method | Linkage analysis |
| Hg19 start-end | 11072401-11086477 |
| Hg38 start-end | 11012344-11026420 |
| Category | Definitive ALS gene |
| Evidence summary | To be drafted |
| Review references | To be added |
| Mnemonic | Chromosome | Position hg19 | HGVS | Pubmed links | # publications | # patients |
|---|---|---|---|---|---|---|
| A315A | 1 | 11082411 | NM_007375.4:c.945G>A | 19864663 | 1 | 0 |
| A315E | 1 | 11082410 | NM_007375.3:c.944C>A | 21956716 | 1 | 0 |
| A315T | 1 | 11082409 | NM_007375.3:c.943G>A | 20577002 18288693 18372902 | 3 | 5 |
| A321G | 1 | 11082428 | NM_007375.3:c.962C>G | 19864663 | 1 | 2 |
| A321V | 1 | 11082428 | NM_007375.3:c.962C>T | 19760257 | 1 | 1 |
| A366A | 1 | 11082564 | NM_007375.3:c.1098C>G | 19411082 20082726 | 2 | 0 |
| A382P | 1 | 11082610 | NM_007375.3:c.1144G>C | 18931000 | 1 | 1 |
| A382T | 1 | 11082610 | NM_007375.3:c.1144G>A | 20577002 20959352 19224587 19236453 18372902 | 5 | 19 |
| A66A | 1 | 11073982 | NM_007375.3:c.198T>C | 19864663 18931000 18545701 | 3 | 2 |
| A90V | 1 | 11076931 | NM_007375.3:c.269C>T | 19236453 18545701 19760257 18309045 18505686 | 5 | 0 |
| c.-12-54G>A | 1 | 11073719 | NM_007375.3:c.-12-54G>A | 19760257 | 1 | 0 |
| c.-66G>T | 1 | 11072747 | NM_007375.3:c.-66G>T | 19760257 | 1 | 0 |
| c.-69C>T | 1 | 11072744 | NM_007375.3:c.-69C>T | 19760257 | 1 | 0 |
| c.403-80G>A | 1 | 11078710 | NM_007375.3:c.403-80G>A | 19760257 | 1 | 0 |
| c.411A>G | 1 | 11078798 | NM_007375.3:c.411A>G | 19760257 | 1 | 0 |
| c.543+112C>A | 1 | 11079042 | NM_007375.3:c.543+112C>A | 19760257 | 1 | 0 |
| c.81G>A | 1 | 11073865 | NM_007375.3:c.81G>A | 19760257 | 1 | 0 |
| D169G | 1 | 11078893 | NM_007375.3:c.506A>G | 18372902 | 1 | 1 |
| D65E | 18545701 | 1 | 0 | |||
| G287S | 1 | 11082325 | NM_007375.3:c.859G>A | 19224587 18372902 19760257 | 3 | 4 |
| G290A | 1 | 11082335 | NM_007375.3:c.869G>C | 18396105 | 1 | 2 |
| G294A | 1 | 11082347 | NM_007375.3:c.881G>C | 18309045 | 1 | 1 |
| G294V | 1 | 11082347 | NM_007375.3:c.881G>T | 20959352 19224587 19236453 19864664 | 4 | 7 |
| G295C | 1 | 11082349 | NM_007375.4:c.883G>T | 23155438 | 1 | 0 |
| G295R | 1 | 11082349 | NM_007375.3:c.883G>C | 19224587 | 1 | 1 |
| G295S | 1 | 11082349 | NM_007375.3:c.883G>A | 20577002 19350673 19224587 19236453 | 4 | 6 |
| G298S | 1 | 11082358 | NM_007375.3:c.892G>A | 18396105 | 1 | 3 |
| G335D | 1 | 11082470 | NM_007375.3:c.1004G>A | 19224587 | 1 | 1 |
| G348C | 1 | 11082508 | NM_007375.3:c.1042G>T | 20577002 18931000 19236453 18372902 18779421 | 5 | 8 |
| G348V | 1 | 11082509 | NM_007375.3:c.1043G>T | 19760257 | 1 | 3 |
| G357R | 1 | 11082535 | NM_007375.4:c.1069G>C | 22456481 | 1 | 0 |
| G357S | 1 | 11082535 | NM_007375.4:c.1069G>A | 20675015 28160950 | 2 | 0 |
| G368S | 1 | 11082568 | NM_007375.4:c.1102G>A | 21120508 22550220 | 2 | 0 |
| G376D | 1 | 11082593 | NM_007375.4:c.1127G>A | 20959352 | 1 | 1 |
| G384R | 1 | 11082616 | NM_007375.3:c.1150G>C | 20577002 | 1 | 0 |
| G40G | 1 | 11073904 | NM_007375.3:c.120G>A | 20082726 | 1 | 0 |
| I383T | 1 | 11082614 | NM_007375.4:c.1148T>C | 23155438 | 1 | 0 |
| I383V | 1 | 11082613 | NM_007375.3:c.1147A>G | 23155438 18802454 | 2 | 3 |
| M311V | 1 | 11082397 | NM_007375.3:c.931A>G | 19228676 | 1 | 1 |
| M337V | 1 | 11082475 | NM_007375.3:c.1009A>G | 20472325 19224587 19760257 18802454 18309045 | 5 | 9 |
| M359V | 1 | 11082541 | NM_007375.4:c.1075A>G | 20645878 | 1 | 1 |
| N267S | 1 | 11082266 | NM_007375.3:c.800A>G | 19224587 | 1 | 1 |
| N345K | 1 | 11082501 | NM_007375.3:c.1035C>A | 18802454 | 1 | 1 |
| N352N | 18545701 | 1 | 0 | |||
| N352S | 1 | 11082521 | NM_007375.3:c.1055A>G | 23155438 19411082 18779421 | 3 | 3 |
| N352T | 1 | 11082521 | NM_007375.4:c.1055A>C | 21438137 | 1 | 0 |
| N378D | 1 | 11082598 | NM_007375.3:c.1132A>G | 20472325 | 1 | 0 |
| N378S | 1 | 11082599 | NM_007375.4:c.1133A>G | 20708823 | 1 | 0 |
| N378_A382del | 1 | 11082597 | NM_007375.4:c.1133_1147del | 29650794 | 1 | 0 |
| N390D | 1 | 11082634 | NM_007375.3:c.1168A>G | 18372902 | 1 | 1 |
| N390S | 1 | 11082635 | NM_007375.3:c.1169A>G | 18372902 | 1 | 1 |
| P225P | 18545701 | 1 | 0 | |||
| P363A | 1 | 11082553 | NM_007375.3:c.1087C>G | 18931000 | 1 | 1 |
| Q303H | 1 | 11082375 | NM_007375.4:c.909A>C | 22722621 | 1 | 0 |
| Q331K | 1 | 11082457 | NM_007375.3:c.991C>A | 18309045 | 1 | 1 |
| Q343R | 1 | 11082494 | NM_007375.3:c.1028A>G | 18438952 | 1 | 3 |
| R361S | 1 | 11082549 | NM_007375.3:c.1083G>T | 18372902 | 1 | 1 |
| R361T | 1 | 11082548 | NM_007375.4:c.1082G>C | 22456481 | 1 | 0 |
| S104S | 1 | 11076974 | NM_007375.3:c.312C>T | 19760257 | 1 | 0 |
| S292N | 1 | 11082341 | NM_007375.3:c.875G>A | 20082726 22575358 | 2 | 5 |
| S317T | 1 | 11082416 | NM_007375.4:c.950G>C | 26601740 | 1 | 0 |
| S332N | 1 | 11082461 | NM_007375.3:c.995G>A | 19224587 | 1 | 1 |
| S375G | 1 | 11082589 | NM_007375.4:c.1123A>G | 25382069 | 1 | 0 |
| S379C | 1 | 11082602 | NM_007375.3:c.1136C>G | 19224587 | 1 | 1 |
| S379P | 1 | 11082601 | NM_007375.3:c.1135T>C | 19224587 | 1 | 1 |
| S387delinsTNP | 1 | 11082624 | NM_007375.4:c.1158_1159delATinsCACCAACC | 22424122 | 1 | 0 |
| S393L | 1 | 11082644 | NM_007375.3:c.1178C>T | 19224587 | 1 | 4 |
| W385G | 1 | 11082619 | NM_007375.3:c.1153T>G | 20577002 | 1 | 0 |
| Y374X | 1 | 11082588 | NM_007375.3:c.1122T>A | 18931000 | 1 | 1 |
| Pubmed ID | First author | Year | Title | |
|---|---|---|---|---|
| 19864663 | Bäumer | 2009 | TARDBP in amyotrophic lateral sclerosis: identification of a novel variant but absence of copy number variation | |
| 19350673 | Benajiba | 2009 | TARDBP mutations in motoneuron disease with frontotemporal lobar degeneration | |
| 20645878 | Borroni | 2014 | TARDBP mutations in frontotemporal lobar degeneration: frequency, clinical features, and disease course | |
| 25382069 | Cady | 2015 | Amyotrophic lateral sclerosis onset is inuenced by the burden of rare variants in known amyotrophic lateral sclerosis genes | |
| 22456481 | Chiang | 2012 | Novel TARDBP mutations in Nordic ALS patients | |
| 22550220 | Chio | 2012 | ALS/FTD phenotype in two Sardinian families carrying both C9ORF72 and TARDBP mutations | |
| 20959352 | Conforti | 2011 | TARDBP gene mutations in south Italian patients with amyotrophic lateral sclerosis | |
| 19224587 | Corrado | 2009 | High frequency of TARDBP gene mutations in Italian patients with amyotrophic lateral sclerosis | |
| 18931000 | Daoud | 2008 | Contribution of TARDBP mutations to sporadic amyotrophic lateral sclerosis | |
| 21120508 | De | 2011 | Cytoplasmic accumulation of TDP-43 in circulating lymphomonocytes ofALS patients with and without TARDBP mutations | |
| 19236453 | Del Bo | 2009 | TARDBP (TDP-43) sequence analysis in patients with familial and sporadic ALS: identification of two novel mutations | |
| 21956716 | Fujita | 2011 | Different clinical and neuropathologic phenotypes of familial ALS with A315E TARDBP mutation | |
| 18288693 | Gitcho | 2008 | TDP-43 A315T mutation in familial motor neuron disease | |
| 18545701 | Guerreiro | 2008 | TDP-43 is not a common cause of sporadic amyotrophic lateral sclerosis | |
| 20708823 | Huang | 2012 | TARDBP gene mutations among Chinese patients with sporadic amyotrophic lateral sclerosis | |
| 20675015 | Iida | 2012 | Large scale screening of TARDBP mutation in amyotrophic lateral sclerosis in Japanese | |
| 18372902 | Kabashi | 2008 | TARDBP mutations in individuals with sporadic and familial amyotrophic lateral sclerosis | |
| 19411082 | Kamada | 2009 | Screening for TARDBP mutations in Japanese familial amyotrophic lateral sclerosis | |
| 26601740 | Kim | 2016 | Identification of mutations in Korean patients with amyotrophic lateral sclerosis using multigene panel testing | |
| 19760257 | Kirby | 2009 | Broad clinical phenotypes associated with TAR-DNA binding protein (TARDBP) mutations in amyotrophic lateral sclerosis | |
| 18779421 | Kuhnlein | 2008 | Two German kindreds with familial amyotrophic lateral sclerosis due to TARDBP mutations | |
| 22722621 | Lattante | 2012 | Contribution of major amyotrophic lateral sclerosis genes to the etiology of sporadic disease | |
| 19228676 | Lemmens | 2009 | TDP-43 M311V mutation in familial amyotrophic lateral sclerosis | |
| 20577002 | Millecamps | 2010 | SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations | |
| 29650794 | Muller | 2018 | Comprehensive analysis of the mutation spectrum in 301 German ALS families | |
| 28160950 | Nishiyama | 2017 | Comprehensive targeted next-generation sequencing in Japanese familial amyotrophic lateral sclerosis | |
| 18802454 | Rutherford | 2008 | Novel mutations in TARDBP (TDP-43) in patients with familial amyotrophic lateral sclerosis | |
| 22424122 | Solski | 2012 | A novel TARDBP insertion/deletion mutation in theA0flail arm variant of amyotrophic lateral sclerosis | |
| 18309045 | Sreedharan | 2008 | TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis | |
| 21438137 | Ticozzi | 2011 | Mutational analysis reveals the FUS homolog TAF15 as a candidate gene for familial amyotrophic lateral sclerosis | |
| 20472325 | Tsai | 2010 | FUS, TARDBP, and SOD1 mutations in a Taiwanese cohort with familial ALS | |
| 23155438 | van Blitterswijk | 2012 | Genetic overlap between apparently sporadic motor neuron diseases | |
| 18396105 | Van Deerlin | 2008 | TARDBP mutations in amyotrophic lateral sclerosis with TDP-43 neuropathology: a genetic and histopathological analysis | |
| 19864664 | Williams | 2009 | A novel TARDBP mutation in an Australian amyotrophic lateral sclerosis kindred | |
| 18505686 | Winton | 2008 | A90V TDP-43 variant results in the aberrant localization of TDP-43 in vitro | |
| 20082726 | Xiong | 2010 | Association between novel TARDBP mutations and Chinese patients with amyotrophic lateral sclerosis | |
| 18438952 | Yokoseki | 2008 | TDP-43 mutation in familial amyotrophic lateral sclerosis | |
| 22575358 | Zou | 2012 | Screening of the TARDBP gene in familial and sporadic amyotrophic lateral sclerosis patients of Chinese origin |