Home News About DMDM Database Statistics Research Publications Contact  

Results for the Protein: Q02846
1345920

GUC2D_HUMAN RecName: Full=Retinal guanylyl cyclase 1; Short=RETGC-1; AltName: Full=Guanylate cyclase 2D, retinal; AltName: Full=Rod outer segment membrane guanylate cyclase; Short=ROS-GC; Flags: Precursor

Known Diseases associated with this Protein:
  CONE-ROD DYSTROPHY 6
  CONE-ROD DYSTROPHY 6 (CORD6)
  LEBER CONGENITAL AMAUROSIS 1
  LEBER CONGENITAL AMAUROSIS 1 (LCA1)
30
12
7
5
30
Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

 Clicking a check box will display or hide the correlated domain.

 To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.



Default View:

STYKc - smart00221
S_TKc - smart00220
TyrKc - smart00219
Pkinase_Tyr - pfam07714
HNOBA - pfam07701
CYCc - smart00044


Swiss-Prot Protein: Q02846
Identical to: NP_000171
   Default View:







Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
STYKcsmart002218.6e-05510803
S_TKcsmart002201e-08535805
Pkinase_Tyrpfam077148e-12545805
TyrKcsmart002195.6e-08545805
HNOBApfam077010.00078718865
CYCcsmart000441.9e-1028441037

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_042232Polymorphismp.ALA693GLUN/A
Swiss-ProtVAR_009129Diseasep.ALA362SERLeber congenital amaurosis 1 (LCA1)
dbSNPrs61749665 Diseasep.ALA52SERLeber congenital amaurosis 1 (LCA1)
Swiss-ProtVAR_042229Polymorphismp.ALA328VALN/A
Swiss-ProtVAR_067174Diseasep.ARG438CYSLeber congenital amaurosis 1 (LCA1)
Swiss-ProtVAR_003437Diseasep.ARG838CYSCone-rod dystrophy 6 (CORD6)
Swiss-ProtVAR_067176Diseasep.ARG660GLNLeber congenital amaurosis 1 (LCA1)
Swiss-ProtVAR_067181Diseasep.ARG795GLNLeber congenital amaurosis 1 (LCA1)
Swiss-ProtVAR_015373Diseasep.ARG838HISCone-rod dystrophy 6 (CORD6)
Swiss-ProtVAR_049254Polymorphismp.ARG331SERN/A
Swiss-ProtVAR_049255Polymorphismp.ARG602TRPN/A
Swiss-ProtVAR_049256Polymorphismp.ARG722TRPN/A
Swiss-ProtVAR_067179Diseasep.ARG768TRPLeber congenital amaurosis 1 (LCA1)
Swiss-ProtVAR_067177Diseasep.ASP728HISLeber congenital amaurosis 1 (LCA1)
Swiss-ProtVAR_023770Diseasep.CYS105TYRLeber congenital amaurosis 1 (LCA1)
Swiss-ProtVAR_003436Diseasep.GLU837ASPCone-rod dystrophy 6 (CORD6)
Swiss-ProtVAR_067170Diseasep.GLU103VALLeber congenital amaurosis 1 (LCA1)
Swiss-ProtVAR_042230Polymorphismp.GLY431ASPN/A
Swiss-ProtVAR_067178Diseasep.ILE734ALALeber congenital amaurosis 1 (LCA1)
Swiss-ProtVAR_009130Diseasep.ILE573VALLeber congenital amaurosis 1 (LCA1)
Swiss-ProtVAR_067172Polymorphismp.LEU325ARGN/A
dbSNPrs8069344 Polymorphismp.LEU782HISN/A
Swiss-ProtVAR_023771Diseasep.LEU325PROLeber congenital amaurosis 1 (LCA1)
Swiss-ProtVAR_009135Diseasep.LEU954PROLeber congenital amaurosis 1 (LCA1)
Swiss-ProtVAR_067180Diseasep.MET784ARGLeber congenital amaurosis 1 (LCA1)
Swiss-ProtVAR_009131Diseasep.PHE565SERLeber congenital amaurosis 1 (LCA1)
dbSNPrs28743021 Polymorphismp.PRO575LEUN/A
dbSNPrs34598902 Polymorphismp.PRO701SERN/A
Swiss-ProtVAR_009134Diseasep.PRO858SERLeber congenital amaurosis 1 (LCA1)
Swiss-ProtVAR_067182Diseasep.SER1007LEULeber congenital amaurosis 1 (LCA1)
Swiss-ProtVAR_067171Diseasep.THR312METLeber congenital amaurosis 1 (LCA1)
Swiss-ProtVAR_067169Diseasep.THR55METLeber congenital amaurosis 1 (LCA1)
dbSNPrs9905402 Polymorphismp.TRP21ARGN/A
Swiss-ProtVAR_067175Diseasep.TRP640LEULeber congenital amaurosis 1 (LCA1)
Swiss-ProtVAR_042231Polymorphismp.VAL507METN/A
OMIM600179.0004 Diseasep.ALA52SERLEBER CONGENITAL AMAUROSIS 1
OMIM600179.0006 Diseasep.ARG838CYSCONE-ROD DYSTROPHY 6
OMIM600179.0008 Diseasep.ARG838HISCONE-ROD DYSTROPHY 6
OMIM600179.0005 Diseasep.ARG838SERCONE-ROD DYSTROPHY 6
OMIM600179.0005 Diseasep.GLU837ASPCONE-ROD DYSTROPHY 6
OMIM600179.0010 Diseasep.ILE949THRCONE-ROD DYSTROPHY 6
OMIM600179.0001 Diseasep.PHE565SERLEBER CONGENITAL AMAUROSIS 1



   |   1000 Hilltop Circle, Baltimore, MD 21250   |   Department of Biological Sciences   |   Phone: 410-455-2258