Results for the protein: Q9NZJ4

Results for the Protein: Q9NZJ4

122066060

26278

SACS

NCBI, UniProt

SACS_HUMAN RecName: Full=Sacsin; AltName: Full=DnaJ homolog subfamily C member 29; Short=DNAJC29

Known Diseases associated with this Protein:
SPASTIC ATAXIA CHARLEVOIX-SAGUENAY TYPE (SACS)
SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE

28

9

4

4

29

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Default View: HEPN - smart00748	Swiss-Prot Protein: Q9NZJ4 Identical to: NP_055178 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 ↕
Swiss-Prot	VAR_064822	Disease	p.ALA4074PRO	Spastic ataxia Charlevoix-Saguenay type (SACS)
Swiss-Prot	VAR_059717	Polymorphism	p.ALA694THR	N/A
Swiss-Prot	VAR_064813	Disease	p.ARG2703CYS	Spastic ataxia Charlevoix-Saguenay type (SACS)
Swiss-Prot	VAR_064818	Disease	p.ARG3636GLN	Spastic ataxia Charlevoix-Saguenay type (SACS)
Swiss-Prot	VAR_064823	Disease	p.ARG4331GLN	Spastic ataxia Charlevoix-Saguenay type (SACS)
Swiss-Prot	VAR_064809	Disease	p.ARG1575PRO	Spastic ataxia Charlevoix-Saguenay type (SACS)
Swiss-Prot	VAR_059721	Polymorphism	p.ASN4217ASP	N/A
Swiss-Prot	VAR_064826	Disease	p.ASN4549ASP	Spastic ataxia Charlevoix-Saguenay type (SACS)
dbSNP	rs2031640	Polymorphism	p.ASN232LYS	N/A
Swiss-Prot	VAR_064801	Disease	p.ASP168TYR	Spastic ataxia Charlevoix-Saguenay type (SACS)
Swiss-Prot	VAR_064806	Disease	p.CYS991ARG	Spastic ataxia Charlevoix-Saguenay type (SACS)
Swiss-Prot	VAR_064824	Disease	p.GLU4343LYS	Spastic ataxia Charlevoix-Saguenay type (SACS)
Swiss-Prot	VAR_064810	Disease	p.HIS1587ARG	Spastic ataxia Charlevoix-Saguenay type (SACS)
Swiss-Prot	VAR_064803	Disease	p.LEU308PHE	Spastic ataxia Charlevoix-Saguenay type (SACS)
Swiss-Prot	VAR_064817	Disease	p.LEU3481PRO	Spastic ataxia Charlevoix-Saguenay type (SACS)
Swiss-Prot	VAR_064819	Disease	p.LEU3645PRO	Spastic ataxia Charlevoix-Saguenay type (SACS)
Swiss-Prot	VAR_064804	Disease	p.LEU556PRO	Spastic ataxia Charlevoix-Saguenay type (SACS)
Swiss-Prot	VAR_064805	Disease	p.LEU802PRO	Spastic ataxia Charlevoix-Saguenay type (SACS)
dbSNP	rs11839380	Polymorphism	p.LYS2958ARG	N/A
Swiss-Prot	VAR_059718	Polymorphism	p.LYS2017ASN	N/A
Swiss-Prot	VAR_064825	Disease	p.LYS4508THR	Spastic ataxia Charlevoix-Saguenay type (SACS)
Swiss-Prot	VAR_035986	Polymorphism	p.MET1795ILE	N/A
Swiss-Prot	VAR_064808	Disease	p.MET1311LYS	Spastic ataxia Charlevoix-Saguenay type (SACS)
Swiss-Prot	VAR_064807	Disease	p.PHE1054SER	Spastic ataxia Charlevoix-Saguenay type (SACS)
Swiss-Prot	VAR_064821	Disease	p.PHE3653SER	Spastic ataxia Charlevoix-Saguenay type (SACS)
dbSNP	rs17078601	Polymorphism	p.PRO3678ALA	N/A
Swiss-Prot	VAR_064814	Disease	p.PRO2798GLN	Spastic ataxia Charlevoix-Saguenay type (SACS)
Swiss-Prot	VAR_064820	Disease	p.PRO3652THR	Spastic ataxia Charlevoix-Saguenay type (SACS)
Swiss-Prot	VAR_069775	Polymorphism	p.THR3702ALA	N/A
Swiss-Prot	VAR_064802	Disease	p.THR201LYS	Spastic ataxia Charlevoix-Saguenay type (SACS)
Swiss-Prot	VAR_064811	Disease	p.TRP1946ARG	Spastic ataxia Charlevoix-Saguenay type (SACS)
Swiss-Prot	VAR_064816	Disease	p.TRP3248ARG	Spastic ataxia Charlevoix-Saguenay type (SACS)
dbSNP	rs17078605	Polymorphism	p.VAL3369ALA	N/A
OMIM	604490.0003	Disease	p.ALA3324PRO	SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE
OMIM	604490.0009	Disease	p.PHE304SER	SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE
OMIM	604490.0006	Disease	p.TRP1196ARG	SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE
OMIM	604490.0008	Disease	p.TRP2498ARG	SPASTIC ATAXIA, CHARLEVOIX-SAGUENAY TYPE

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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