Table 6. [Notable TARDBP Pathogenic Variants]. - GeneReviews®

Reference Sequences	DNA Nucleotide Change	Predicted Protein Change	Comment [Reference]
NM_007375.4 NP_031401.1	c.800A>G	p.Asn267Ser	Common variant [Borroni et al 2009]
c.859G>A	p.Gly287Ser	Common variant [Morgan et al 2017]
c.881G>T	p.Gly294Val	Common variant [Sun et al 2014]; reported in homozygous state in person w/ALS [Corrado et al 2020]
c.883G>A	p.Gly295Ser	Common variant [Floris et al 2015]
c.892G>A	p.Gly298Ser	ALS founder variant in southern China [Xu et al 2022]
c.943G>A	p.Ala315Thr	Common variant [Corcia et al 2021]
c.1009A>G	p.Met337Val	Common variant [Sreedharan et al 2008, Pang et al 2017]
c.1122T>G	p.Tyr374Term	Atypical TDP-43 expression in person w/ALS [Cooper-Knock et al 2022]
c.1144G>A	p.Ala382Thr	Common variant in Sardinia [Floris et al 2016]; reported in homozygous state in 2 families in which 1 member had ALS-FTD & another family member had either (1) no neurologic disease [Mosca et al 2012] or (2) ALS-FTD [Borghero et al 2011]
c.527A>T	p.Lys176Ile	Mutated lysine residue assoc w/FTD phenotypes [Chen et al 2021]
c.541A>G	p.Lys181Glu	Mutated lysine residue assoc w/FTD phenotypes [Chen et al 2019]
c.787A>G	p.Lys263Glu	Mutated lysine residue assoc w/FTD phenotypes [Kovacs et al 2009]

Reference Sequences

DNA Nucleotide Change

Predicted Protein Change

Comment [Reference]

NM_007375.4
NP_031401.1

c.800A>G

p.Asn267Ser

Common variant [Borroni et al 2009]

c.859G>A

p.Gly287Ser

Common variant [Morgan et al 2017]

c.881G>T

p.Gly294Val

Common variant [Sun et al 2014]; reported in homozygous state in person w/ALS [Corrado et al 2020]

c.883G>A

p.Gly295Ser

Common variant [Floris et al 2015]

c.892G>A

p.Gly298Ser

ALS founder variant in southern China [Xu et al 2022]

c.943G>A

p.Ala315Thr

Common variant [Corcia et al 2021]

c.1009A>G

p.Met337Val

Common variant [Sreedharan et al 2008, Pang et al 2017]

c.1122T>G

p.Tyr374Term

Atypical TDP-43 expression in person w/ALS [Cooper-Knock et al 2022]

c.1144G>A

p.Ala382Thr

Common variant in Sardinia [Floris et al 2016]; reported in homozygous state in 2 families in which 1 member had ALS-FTD & another family member had either (1) no neurologic disease [Mosca et al 2012] or (2) ALS-FTD [Borghero et al 2011]

c.527A>T

p.Lys176Ile

Mutated lysine residue assoc w/FTD phenotypes [Chen et al 2021]

c.541A>G

p.Lys181Glu

Mutated lysine residue assoc w/FTD phenotypes [Chen et al 2019]

c.787A>G

p.Lys263Glu

Mutated lysine residue assoc w/FTD phenotypes [Kovacs et al 2009]

From: TARDBP-Related Amyotrophic Lateral Sclerosis-Frontotemporal Dementia

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