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Results for the Protein: Q8WXG9
327478512

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
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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-betapfam031603.4e-1110021093
Calx-betapfam031606.5e-1317241809
Calx-betapfam031601.2e-1219762079
Calx-betapfam031607.4e-0521172206
Calx-betapfam031600.0001325932676
Calx-betapfam031606.5e-0829593048
EPTPpfam037362e-1033943439
Calx-betapfam031600.0002640314123
Calx-betapfam031602.1e-1742664354
Calx-betapfam031603.1e-1143974489
Calx-betapfam031600.0001350025095
GPSpfam018251.6e-1158525897
7tm_2pfam000022.5e-0559096148
Calx_betasmart002370.0001130117
Calx_betasmart002374.2e-0510021093
LamGLsmart005600.0007913531493
Calx_betasmart002373.7e-1417201809
Calx_betasmart002371.6e-0619782079
Calx_betasmart002370.0004921172206
Calx_betasmart002370.0001922322324
Calx_betasmart002372e-1025952676
Calx_betasmart002373.9e-0929593048
Calx_betasmart002370.0004739104006
Calx_betasmart002370.0004340314123
Calx_betasmart002371.4e-1842664354
Calx_betasmart002373.4e-0943974489
Calx_betasmart002379.1e-0550025095
GPSsmart003030.000358525902

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_026008Polymorphismp.ALA2803THRN/A
Swiss-ProtVAR_026009Polymorphismp.ALA3217VALN/A
Swiss-ProtVAR_046349Polymorphismp.ARG2097CYSN/A
dbSNPrs73175207 Polymorphismp.ARG2959GLNN/A
Swiss-ProtVAR_025996Polymorphismp.ARG249LYSN/A
Swiss-ProtVAR_068032Diseasep.ARG4789TRPUsher syndrome 2C (USH2C)
dbSNPrs41303352 Polymorphismp.ASN1985ASPN/A
Swiss-ProtVAR_026004Polymorphismp.ASN2345SERN/A
Swiss-ProtVAR_026006Polymorphismp.ASN2584SERN/A
Swiss-ProtVAR_046352Polymorphismp.GLU3867ALAN/A
Swiss-ProtVAR_055933Polymorphismp.GLU3868ALAN/A
Swiss-ProtVAR_026012Polymorphismp.GLU5344GLYN/A
Swiss-ProtVAR_026011Polymorphismp.GLU3471LYSN/A
dbSNPrs10062026 Polymorphismp.GLU3867LYSN/A
Swiss-ProtVAR_026005Polymorphismp.GLY2379ALAN/A
Swiss-ProtVAR_026010Polymorphismp.GLY3248ASPN/A
Swiss-ProtVAR_068033Diseasep.HIS5978ARGUsher syndrome 2C (USH2C)
Swiss-ProtVAR_046347Polymorphismp.ILE1187VALN/A
dbSNPrs41311333 Polymorphismp.LEU127ARGN/A
Swiss-ProtVAR_025997Polymorphismp.LEU1093PHEN/A
dbSNPrs16868972 Polymorphismp.LEU2004PHEN/A
dbSNPrs79915053 Polymorphismp.LEU2605VALN/A
dbSNPrs77469944 Polymorphismp.MET6159VALN/A
Swiss-ProtVAR_046351Polymorphismp.PHE3347LEUN/A
dbSNPrs62000408 Polymorphismp.PHE4677LEUN/A
dbSNPrs61745498 Polymorphismp.PRO194HISN/A
dbSNPrs4916685 Polymorphismp.PRO1987LEUN/A
Swiss-ProtVAR_026007Polymorphismp.SER2764LEUN/A
Swiss-ProtVAR_026013Polymorphismp.THR5437ALAN/A
Swiss-ProtVAR_046348Polymorphismp.THR1916ILEN/A
dbSNPrs17544552 Polymorphismp.THR1927METN/A
dbSNPrs7729495 Polymorphismp.TRP4969ARGN/A
Swiss-ProtVAR_026003Polymorphismp.TYR2232CYSN/A
dbSNPrs6889939 Polymorphismp.VAL551ALAN/A
Swiss-ProtVAR_025999Polymorphismp.VAL1951ILEN/A
Swiss-ProtVAR_046350Polymorphismp.VAL3094ILEN/A
dbSNPrs2247870 Polymorphismp.VAL5876ILEN/A
dbSNPrs2460169 Polymorphismp.VAL4198METN/A
dbSNPrs2438378 Polymorphismp.VAL5427METN/A
OMIM602851.0002 Diseasep.GLN2301TERUSHER SYNDROME, TYPE IIC
OMIM602851.0001 Diseasep.SER2652TERFEBRILE SEIZURES, FAMILIAL, 4
OMIM602851.0006 Diseasep.TYR6044CYSUSHER SYNDROME, TYPE IIC



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