Results for the protein: O76024

Results for the Protein: O76024

317373289

7466

WFS1

NCBI, UniProt

WFS1_HUMAN RecName: Full=Wolframin

Known Diseases associated with this Protein:
  CATARACT 41 (1 FAMILY)
  DEAFNESS, AUTOSOMAL DOMINANT 6
  DEAFNESS, AUTOSOMAL DOMINANT 6, INCLUDED
  DEAFNESS, AUTOSOMAL DOMINANT, 6 (DFNA6)
  WOLFRAM SYNDROME 1
  WOLFRAM SYNDROME 1 (WFS1)
  WOLFRAM-LIKE SYNDROME AUTOSOMAL DOMINANT (WFSL)
  WOLFRAM-LIKE SYNDROME, AUTOSOMAL DOMINANT

51

20

17

9

45

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Default View:	Swiss-Prot Protein: O76024 Identical to: NP_001139325, NP_005996 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	rs2230720	Polymorphism	p.ALA602GLU	N/A
Swiss-Prot	VAR_011306	Disease	p.ALA126THR	Wolfram syndrome 1 (WFS1)
Swiss-Prot	VAR_014034	Disease	p.ALA133THR	Wolfram syndrome 1 (WFS1)
Swiss-Prot	VAR_010602	Polymorphism	p.ALA559THR	N/A
Swiss-Prot	VAR_032965	Disease	p.ALA716THR	Deafness, autosomal dominant, 6 (DFNA6)
Swiss-Prot	VAR_029500	Polymorphism	p.ALA326VAL	N/A
Swiss-Prot	VAR_011305	Disease	p.ALA58VAL	Wolfram syndrome 1 (WFS1)
Swiss-Prot	VAR_024554	Polymorphism	p.ALA602VAL	N/A
Swiss-Prot	VAR_011310	Disease	p.ALA684VAL	Wolfram-like syndrome autosomal dominant (WFSL)
Swiss-Prot	VAR_068343	Disease	p.ARG558CYS	Wolfram syndrome 1 (WFS1)
Swiss-Prot	VAR_014037	Polymorphism	p.ARG653CYS	N/A
Swiss-Prot	VAR_011311	Polymorphism	p.ARG708CYS	N/A
Swiss-Prot	VAR_011314	Disease	p.ARG818CYS	Wolfram syndrome 1 (WFS1)
Swiss-Prot	VAR_068347	Disease	p.ARG859GLN	Deafness, autosomal dominant, 6 (DFNA6)
dbSNP	rs1801208	Polymorphism	p.ARG456HIS	N/A
dbSNP	rs734312	Polymorphism	p.ARG611HIS	N/A
Swiss-Prot	VAR_029502	Disease	p.ARG457SER	Wolfram syndrome 1 (WFS1)
Swiss-Prot	VAR_029505	Disease	p.ARG629TRP	Wolfram syndrome 1 (WFS1)
dbSNP	rs1801214	Polymorphism	p.ASN500LYS	N/A
dbSNP	rs3821945	Polymorphism	p.ASP866ASN	N/A
Swiss-Prot	VAR_068345	Disease	p.ASP797TYR	Wolfram-like syndrome autosomal dominant (WFSL)
Swiss-Prot	VAR_009116	Disease	p.CYS690ARG	Wolfram syndrome 1 (WFS1)
Swiss-Prot	VAR_009109	Disease	p.GLU169LYS	Wolfram syndrome 1 (WFS1)
Swiss-Prot	VAR_011312	Polymorphism	p.GLU737LYS	N/A
Swiss-Prot	VAR_032969	Disease	p.GLU864LYS	Wolfram-like syndrome autosomal dominant (WFSL)
Swiss-Prot	VAR_032962	Polymorphism	p.GLY107ARG	N/A
Swiss-Prot	VAR_009114	Disease	p.GLY437ARG	Wolfram syndrome 1 (WFS1)
Swiss-Prot	VAR_011309	Polymorphism	p.GLY674ARG	N/A
Swiss-Prot	VAR_011313	Disease	p.GLY780ARG	Wolfram syndrome 1 (WFS1)
Swiss-Prot	VAR_032968	Disease	p.GLY831ASP	Deafness, autosomal dominant, 6 (DFNA6)
dbSNP	rs1805069	Polymorphism	p.GLY576SER	N/A
Swiss-Prot	VAR_009118	Disease	p.GLY736SER	Wolfram syndrome 1 (WFS1)
Swiss-Prot	VAR_068344	Disease	p.GLY780SER	Wolfram-like syndrome autosomal dominant (WFSL)
Swiss-Prot	VAR_005844	Disease	p.GLY695VAL	Wolfram syndrome 1 (WFS1)
Swiss-Prot	VAR_009111	Disease	p.ILE296SER	Wolfram syndrome 1 (WFS1)
dbSNP	rs1805070	Polymorphism	p.ILE720VAL	N/A
Swiss-Prot	VAR_029506	Polymorphism	p.ILE802VAL	N/A
Swiss-Prot	VAR_032967	Disease	p.LEU829PRO	Deafness, autosomal dominant, 6 (DFNA6)
Swiss-Prot	VAR_068346	Disease	p.LYS836ASN	Wolfram-like syndrome autosomal dominant (WFSL)
Swiss-Prot	VAR_014995	Polymorphism	p.LYS193GLN	N/A
Swiss-Prot	VAR_032963	Disease	p.LYS634THR	Deafness, autosomal dominant, 6 (DFNA6)
dbSNP	rs34653805	Polymorphism	p.PRO16LEU	N/A
Swiss-Prot	VAR_005842	Disease	p.PRO504LEU	Wolfram syndrome 1 (WFS1)
Swiss-Prot	VAR_005845	Disease	p.PRO724LEU	Wolfram syndrome 1 (WFS1)
Swiss-Prot	VAR_009119	Disease	p.PRO885LEU	Wolfram syndrome 1 (WFS1)
Swiss-Prot	VAR_009110	Disease	p.PRO292SER	Wolfram syndrome 1 (WFS1)
Swiss-Prot	VAR_011308	Disease	p.SER443ILE	Wolfram syndrome 1 (WFS1)
Swiss-Prot	VAR_032964	Disease	p.THR699MET	Deafness, autosomal dominant, 6 (DFNA6)
Swiss-Prot	VAR_009117	Disease	p.TRP700CYS	Wolfram syndrome 1 (WFS1)
Swiss-Prot	VAR_029499	Disease	p.TYR110ASN	Wolfram syndrome 1 (WFS1)
Swiss-Prot	VAR_014038	Disease	p.TYR669CYS	Wolfram syndrome 1 (WFS1)
dbSNP	rs1801212	Polymorphism	p.VAL333ILE	N/A
Swiss-Prot	VAR_032966	Disease	p.VAL779MET	Deafness, autosomal dominant, 6 (DFNA6)
Swiss-Prot	VAR_014996	Polymorphism	p.VAL871MET	N/A
OMIM	606201.0014	Disease	p.ALA716THR	DEAFNESS, AUTOSOMAL DOMINANT 6
OMIM	606201.0026	Disease	p.ARG228GLN	WOLFRAM-LIKE SYNDROME, AUTOSOMAL DOMINANT
OMIM	606201.0023	Disease	p.ARG859GLN	DEAFNESS, AUTOSOMAL DOMINANT 6
OMIM	606201.0010	Disease	p.GLN226TER	WOLFRAM SYNDROME 1
OMIM	606201.0011	Disease	p.GLN819TER	WOLFRAM SYNDROME 1
OMIM	606201.0032	Disease	p.GLU462GLY	CATARACT 41 (1 family)
OMIM	606201.0020	Disease	p.GLU864LYS	WOLFRAM-LIKE SYNDROME, AUTOSOMAL DOMINANT\|\|DEAFNESS, AUTOSOMAL DOMINANT 6, INCLUDED
OMIM	606201.0017	Disease	p.GLY831ASP	DEAFNESS, AUTOSOMAL DOMINANT 6
OMIM	606201.0031	Disease	p.GLY780SER	WOLFRAM-LIKE SYNDROME, AUTOSOMAL DOMINANT
OMIM	606201.0004	Disease	p.GLY695VAL	WOLFRAM SYNDROME 1
OMIM	606201.0015	Disease	p.LEU829PRO	DEAFNESS, AUTOSOMAL DOMINANT 6
OMIM	606201.0027	Disease	p.LYS836ASN	WOLFRAM-LIKE SYNDROME, AUTOSOMAL DOMINANT
OMIM	606201.0018	Disease	p.LYS634THR	DEAFNESS, AUTOSOMAL DOMINANT 6
OMIM	606201.0006	Disease	p.PRO504LEU	WOLFRAM SYNDROME 1
OMIM	606201.0003	Disease	p.PRO724LEU	WOLFRAM SYNDROME 1
OMIM	606201.0016	Disease	p.THR699MET	DEAFNESS, AUTOSOMAL DOMINANT 6
OMIM	606201.0005	Disease	p.TRP648TER	WOLFRAM SYNDROME 1

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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