Results for the protein: Q7Z333

Results for the Protein: Q7Z333

296453021

23064

SETX

NCBI, UniProt

SETX_HUMAN RecName: Full=Probable helicase senataxin; AltName: Full=Amyotrophic lateral sclerosis 4 protein; AltName: Full=SEN1 homolog

Known Diseases associated with this Protein:
  AMYOTROPHIC LATERAL SCLEROSIS 4 (ALS4)
  AMYOTROPHIC LATERAL SCLEROSIS 4, JUVENILE
  SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1
  SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, 1 (SCAR1)

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Default View: COG1112 - COG1112	Swiss-Prot Protein: Q7Z333 Identical to: NP_055861 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs882709	Polymorphism	p.ALA660GLY	N/A
Swiss-Prot	VAR_036649	Disease	p.ARG1294CYS	Spinocerebellar ataxia, autosomal recessive, 1 (SCAR1)
Swiss-Prot	VAR_018790	Disease	p.ARG2136HIS	Amyotrophic lateral sclerosis 4 (ALS4)
Swiss-Prot	VAR_018778	Disease	p.ARG332TRP	Spinocerebellar ataxia, autosomal recessive, 1 (SCAR1)
Swiss-Prot	VAR_036647	Disease	p.ASN603ASP	Spinocerebellar ataxia, autosomal recessive, 1 (SCAR1)
dbSNP	rs1185193	Polymorphism	p.ASP1192GLU	N/A
Swiss-Prot	VAR_036648	Disease	p.GLN653LYS	Spinocerebellar ataxia, autosomal recessive, 1 (SCAR1)
dbSNP	rs1183768	Polymorphism	p.GLY1252ARG	N/A
dbSNP	rs543573	Polymorphism	p.ILE1386VAL	N/A
dbSNP	rs1056899	Polymorphism	p.ILE2587VAL	N/A
Swiss-Prot	VAR_018779	Disease	p.LEU389SER	Amyotrophic lateral sclerosis 4 (ALS4)
Swiss-Prot	VAR_056208	Polymorphism	p.LYS1221ASN	N/A
Swiss-Prot	VAR_036646	Disease	p.MET274ILE	Spinocerebellar ataxia, autosomal recessive, 1 (SCAR1)
dbSNP	rs3739922	Polymorphism	p.PHE1152CYS	N/A
Swiss-Prot	VAR_018788	Disease	p.PHE1756SER	Spinocerebellar ataxia, autosomal recessive, 1 (SCAR1)
Swiss-Prot	VAR_036650	Disease	p.PRO2368ARG	Spinocerebellar ataxia, autosomal recessive, 1 (SCAR1)
dbSNP	rs12352982	Polymorphism	p.PRO1061LEU	N/A
Swiss-Prot	VAR_018786	Polymorphism	p.PRO1331LEU	N/A
Swiss-Prot	VAR_018791	Disease	p.PRO2213LEU	Spinocerebellar ataxia, autosomal recessive, 1 (SCAR1)
Swiss-Prot	VAR_018780	Disease	p.PRO413LEU	Spinocerebellar ataxia, autosomal recessive, 1 (SCAR1)
dbSNP	rs3739927	Polymorphism	p.SER2612GLY	N/A
dbSNP	rs2296871	Polymorphism	p.THR1855ALA	N/A
Swiss-Prot	VAR_018776	Disease	p.THR3ILE	Amyotrophic lateral sclerosis 4 (ALS4)
Swiss-Prot	VAR_059458	Polymorphism	p.THR1855PRO	N/A
Swiss-Prot	VAR_018777	Disease	p.TRP305CYS	Spinocerebellar ataxia, autosomal recessive, 1 (SCAR1)
OMIM	608465.0011	Disease	p.ARG1294CYS	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1
OMIM	608465.0008	Disease	p.ARG2136HIS	AMYOTROPHIC LATERAL SCLEROSIS 4, JUVENILE
OMIM	608465.0001	Disease	p.ARG1363TER	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1
OMIM	608465.0005	Disease	p.ARG332TRP	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1
OMIM	608465.0010	Disease	p.ASN603ASP	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1
OMIM	608465.0010	Disease	p.GLN653LYS	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1
OMIM	608465.0002	Disease	p.GLN868TER	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1
OMIM	608465.0013	Disease	p.GLU343TER	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1
OMIM	608465.0009	Disease	p.LEU1976ARG	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1
OMIM	608465.0012	Disease	p.LEU1977PHE	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1
OMIM	608465.0006	Disease	p.LEU389SER	AMYOTROPHIC LATERAL SCLEROSIS 4, JUVENILE
OMIM	608465.0011	Disease	p.MET274ILE	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1
OMIM	608465.0003	Disease	p.PRO2213LEU	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1
OMIM	608465.0007	Disease	p.THR3ILE	AMYOTROPHIC LATERAL SCLEROSIS 4, JUVENILE

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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