Results for the protein: Q8WXG9

Results for the Protein: Q8WXG9

327478512

84059

GPR98

NCBI, UniProt

GPR98_HUMAN RecName: Full=G-protein coupled receptor 98; AltName: Full=Monogenic audiogenic seizure susceptibility protein 1 homolog; AltName: Full=Usher syndrome type-2C protein; AltName: Full=Very large G-protein coupled receptor 1; Flags: Precursor

Known Diseases associated with this Protein:
  FEBRILE SEIZURES, FAMILIAL, 4
  USHER SYNDROME 2C (USH2C)
  USHER SYNDROME, TYPE IIC

5

37

3

16

23

Tips:

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Default View: Calx_beta - smart00237 Calx-beta - pfam03160 LamGL - smart00560 EPTP - pfam03736 GPS - smart00303 GPS - pfam01825 7tm_2 - pfam00002	Swiss-Prot Protein: Q8WXG9 Identical to: NP_115495 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Calx-beta	pfam03160	6.5e-13	1724	1809
Calx-beta	pfam03160	1.2e-12	1976	2079
Calx-beta	pfam03160	7.4e-05	2117	2206
Calx-beta	pfam03160	0.00013	2593	2676
Calx-beta	pfam03160	6.5e-08	2959	3048
EPTP	pfam03736	2e-10	3394	3439
Calx-beta	pfam03160	0.00026	4031	4123
Calx-beta	pfam03160	2.1e-17	4266	4354
Calx-beta	pfam03160	3.1e-11	4397	4489
Calx-beta	pfam03160	0.00013	5002	5095
GPS	pfam01825	1.6e-11	5852	5897
7tm_2	pfam00002	2.5e-05	5909	6148
Calx_beta	smart00237	0.00011	30	117
Calx_beta	smart00237	4.2e-05	1002	1093
LamGL	smart00560	0.00079	1353	1493
Calx_beta	smart00237	3.7e-14	1720	1809
Calx_beta	smart00237	1.6e-06	1978	2079
Calx_beta	smart00237	0.00049	2117	2206
Calx_beta	smart00237	0.00019	2232	2324
Calx_beta	smart00237	2e-10	2595	2676
Calx_beta	smart00237	3.9e-09	2959	3048
Calx_beta	smart00237	0.00047	3910	4006
Calx_beta	smart00237	0.00043	4031	4123
Calx_beta	smart00237	1.4e-18	4266	4354
Calx_beta	smart00237	3.4e-09	4397	4489
Calx_beta	smart00237	9.1e-05	5002	5095
GPS	smart00303	0.0003	5852	5902

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_026008	Polymorphism	p.ALA2803THR	N/A
Swiss-Prot	VAR_026009	Polymorphism	p.ALA3217VAL	N/A
Swiss-Prot	VAR_046349	Polymorphism	p.ARG2097CYS	N/A
dbSNP	rs73175207	Polymorphism	p.ARG2959GLN	N/A
Swiss-Prot	VAR_025996	Polymorphism	p.ARG249LYS	N/A
Swiss-Prot	VAR_068032	Disease	p.ARG4789TRP	Usher syndrome 2C (USH2C)
dbSNP	rs41303352	Polymorphism	p.ASN1985ASP	N/A
Swiss-Prot	VAR_026004	Polymorphism	p.ASN2345SER	N/A
Swiss-Prot	VAR_026006	Polymorphism	p.ASN2584SER	N/A
Swiss-Prot	VAR_046352	Polymorphism	p.GLU3867ALA	N/A
Swiss-Prot	VAR_055933	Polymorphism	p.GLU3868ALA	N/A
Swiss-Prot	VAR_026012	Polymorphism	p.GLU5344GLY	N/A
Swiss-Prot	VAR_026011	Polymorphism	p.GLU3471LYS	N/A
dbSNP	rs10062026	Polymorphism	p.GLU3867LYS	N/A
Swiss-Prot	VAR_026005	Polymorphism	p.GLY2379ALA	N/A
Swiss-Prot	VAR_026010	Polymorphism	p.GLY3248ASP	N/A
Swiss-Prot	VAR_068033	Disease	p.HIS5978ARG	Usher syndrome 2C (USH2C)
Swiss-Prot	VAR_046347	Polymorphism	p.ILE1187VAL	N/A
dbSNP	rs41311333	Polymorphism	p.LEU127ARG	N/A
Swiss-Prot	VAR_025997	Polymorphism	p.LEU1093PHE	N/A
dbSNP	rs16868972	Polymorphism	p.LEU2004PHE	N/A
dbSNP	rs79915053	Polymorphism	p.LEU2605VAL	N/A
dbSNP	rs77469944	Polymorphism	p.MET6159VAL	N/A
Swiss-Prot	VAR_046351	Polymorphism	p.PHE3347LEU	N/A
dbSNP	rs62000408	Polymorphism	p.PHE4677LEU	N/A
dbSNP	rs61745498	Polymorphism	p.PRO194HIS	N/A
dbSNP	rs4916685	Polymorphism	p.PRO1987LEU	N/A
Swiss-Prot	VAR_026007	Polymorphism	p.SER2764LEU	N/A
Swiss-Prot	VAR_026013	Polymorphism	p.THR5437ALA	N/A
Swiss-Prot	VAR_046348	Polymorphism	p.THR1916ILE	N/A
dbSNP	rs17544552	Polymorphism	p.THR1927MET	N/A
dbSNP	rs7729495	Polymorphism	p.TRP4969ARG	N/A
Swiss-Prot	VAR_026003	Polymorphism	p.TYR2232CYS	N/A
dbSNP	rs6889939	Polymorphism	p.VAL551ALA	N/A
Swiss-Prot	VAR_025999	Polymorphism	p.VAL1951ILE	N/A
Swiss-Prot	VAR_046350	Polymorphism	p.VAL3094ILE	N/A
dbSNP	rs2247870	Polymorphism	p.VAL5876ILE	N/A
dbSNP	rs2460169	Polymorphism	p.VAL4198MET	N/A
dbSNP	rs2438378	Polymorphism	p.VAL5427MET	N/A
OMIM	602851.0002	Disease	p.GLN2301TER	USHER SYNDROME, TYPE IIC
OMIM	602851.0001	Disease	p.SER2652TER	FEBRILE SEIZURES, FAMILIAL, 4
OMIM	602851.0006	Disease	p.TYR6044CYS	USHER SYNDROME, TYPE IIC

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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