Results for the protein: Q13148

Results for the Protein: Q13148

20140568

23435

TARDBP

NCBI, UniProt

TADBP_HUMAN RecName: Full=TAR DNA-binding protein 43; Short=TDP-43

Known Diseases associated with this Protein:
  AMYOTROPHIC LATERAL SCLEROSIS 10 (ALS10)
  AMYOTROPHIC LATERAL SCLEROSIS 10 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA
  AMYOTROPHIC LATERAL SCLEROSIS 10 WITHOUT FRONTOTEMPORAL DEMENTIA AND
  AND WITH TDP43 INCLUSIONS
  FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, TARDBP-RELATED
  WITH TDP43 INCLUSIONS

37

1

12

2

24

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Default View: - smart00362 RRM_SF - cd00590 RRM_1 - pfam00076 RRM - smart00360	Swiss-Prot Protein: Q13148 Identical to: NP_031401 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
RRM_SF	cd00590	2.3e-11	192	259
RRM_1	pfam00076	1e-15	106	174
RRM_1	pfam00076	7.9e-07	193	256
	smart00362	5.7e-13	105	176
RRM	smart00360	1e-18	108	176
	smart00362	2.3e-09	192	258
RRM	smart00360	1.9e-10	195	258

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_045662	Disease	p.ALA315THR	Amyotrophic lateral sclerosis 10 (ALS10)
dbSNP	rs11689432	Disease	p.ALA382THR	Amyotrophic lateral sclerosis 10 (ALS10)
Swiss-Prot	VAR_045656	Polymorphism	p.ALA90VAL	N/A
Swiss-Prot	VAR_045666	Disease	p.ARG361SER	Amyotrophic lateral sclerosis 10 (ALS10)
Swiss-Prot	VAR_067500	Disease	p.ARG361THR	Amyotrophic lateral sclerosis 10 (ALS10)
Swiss-Prot	VAR_045668	Disease	p.ASN390ASP	Amyotrophic lateral sclerosis 10 (ALS10)
Swiss-Prot	VAR_058611	Disease	p.ASN267SER	Amyotrophic lateral sclerosis 10 (ALS10)
Swiss-Prot	VAR_045669	Disease	p.ASN390SER	Amyotrophic lateral sclerosis 10 (ALS10)
Swiss-Prot	VAR_045657	Disease	p.ASP169GLY	Amyotrophic lateral sclerosis 10 (ALS10)
Swiss-Prot	VAR_062767	Disease	p.GLN343ARG	Amyotrophic lateral sclerosis 10 (ALS10)
Swiss-Prot	VAR_045663	Disease	p.GLN331LYS	Amyotrophic lateral sclerosis 10 (ALS10)
Swiss-Prot	VAR_045659	Disease	p.GLY290ALA	Amyotrophic lateral sclerosis 10 (ALS10)
Swiss-Prot	VAR_045660	Disease	p.GLY294ALA	Amyotrophic lateral sclerosis 10 (ALS10)
Swiss-Prot	VAR_058613	Disease	p.GLY295ARG	Amyotrophic lateral sclerosis 10 (ALS10)
Swiss-Prot	VAR_067499	Disease	p.GLY357ARG	Amyotrophic lateral sclerosis 10 (ALS10)
Swiss-Prot	VAR_058616	Disease	p.GLY335ASP	Amyotrophic lateral sclerosis 10 (ALS10)
Swiss-Prot	VAR_045665	Disease	p.GLY348CYS	Amyotrophic lateral sclerosis 10 (ALS10)
Swiss-Prot	VAR_045658	Disease	p.GLY287SER	Amyotrophic lateral sclerosis 10 (ALS10)
Swiss-Prot	VAR_058614	Disease	p.GLY295SER	Amyotrophic lateral sclerosis 10 (ALS10)
dbSNP	rs4884357	Disease	p.GLY298SER	Amyotrophic lateral sclerosis 10 (ALS10)
Swiss-Prot	VAR_058612	Disease	p.GLY294VAL	Amyotrophic lateral sclerosis 10 (ALS10)
Swiss-Prot	VAR_045664	Disease	p.MET337VAL	Amyotrophic lateral sclerosis 10 (ALS10)
Swiss-Prot	VAR_058615	Disease	p.SER332ASN	Amyotrophic lateral sclerosis 10 (ALS10)
Swiss-Prot	VAR_058617	Disease	p.SER379CYS	Amyotrophic lateral sclerosis 10 (ALS10)
Swiss-Prot	VAR_058619	Disease	p.SER393LEU	Amyotrophic lateral sclerosis 10 (ALS10)
Swiss-Prot	VAR_058618	Disease	p.SER379PRO	Amyotrophic lateral sclerosis 10 (ALS10)
OMIM	605078.0009	Disease	p.ALA315THR	AMYOTROPHIC LATERAL SCLEROSIS 10 WITHOUT FRONTOTEMPORAL DEMENTIA AND\|\|WITH TDP43 INCLUSIONS
OMIM	605078.0013	Disease	p.ALA382THR	AMYOTROPHIC LATERAL SCLEROSIS 10 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA\|\|AND WITH TDP43 INCLUSIONS
OMIM	605078.0006	Disease	p.ASP169GLY	AMYOTROPHIC LATERAL SCLEROSIS 10 WITHOUT FRONTOTEMPORAL DEMENTIA AND\|\|WITH TDP43 INCLUSIONS
OMIM	605078.0008	Disease	p.GLN343ARG	AMYOTROPHIC LATERAL SCLEROSIS 10 WITHOUT FRONTOTEMPORAL DEMENTIA AND\|\|WITH TDP43 INCLUSIONS
OMIM	605078.0002	Disease	p.GLN331LYS	AMYOTROPHIC LATERAL SCLEROSIS 10 WITHOUT FRONTOTEMPORAL DEMENTIA AND\|\|WITH TDP43 INCLUSIONS
OMIM	605078.0004	Disease	p.GLY290ALA	AMYOTROPHIC LATERAL SCLEROSIS 10 WITHOUT FRONTOTEMPORAL DEMENTIA AND\|\|WITH TDP43 INCLUSIONS
OMIM	605078.0003	Disease	p.GLY294ALA	AMYOTROPHIC LATERAL SCLEROSIS 10 WITHOUT FRONTOTEMPORAL DEMENTIA AND\|\|WITH TDP43 INCLUSIONS
OMIM	605078.0007	Disease	p.GLY348CYS	AMYOTROPHIC LATERAL SCLEROSIS 10 WITHOUT FRONTOTEMPORAL DEMENTIA AND\|\|WITH TDP43 INCLUSIONS
OMIM	605078.0010	Disease	p.GLY295SER	AMYOTROPHIC LATERAL SCLEROSIS 10 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA\|\|AND WITH TDP43 INCLUSIONS
OMIM	605078.0005	Disease	p.GLY298SER	AMYOTROPHIC LATERAL SCLEROSIS 10 WITHOUT FRONTOTEMPORAL DEMENTIA AND\|\|WITH TDP43 INCLUSIONS
OMIM	605078.0011	Disease	p.LYS263GLU	FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, TARDBP-RELATED
OMIM	605078.0001	Disease	p.MET337VAL	AMYOTROPHIC LATERAL SCLEROSIS 10 WITHOUT FRONTOTEMPORAL DEMENTIA AND\|\|WITH TDP43 INCLUSIONS

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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