Results for the protein: Q02846

Results for the Protein: Q02846

1345920

3000

GUCY2D

NCBI, UniProt

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

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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 ↕
S_TKc	smart00220	1e-08	535	805
Pkinase_Tyr	pfam07714	8e-12	545	805
TyrKc	smart00219	5.6e-08	545	805
HNOBA	pfam07701	0.00078	718	865
CYCc	smart00044	1.9e-102	844	1037

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_042232	Polymorphism	p.ALA693GLU	N/A
Swiss-Prot	VAR_009129	Disease	p.ALA362SER	Leber congenital amaurosis 1 (LCA1)
dbSNP	rs61749665	Disease	p.ALA52SER	Leber congenital amaurosis 1 (LCA1)
Swiss-Prot	VAR_042229	Polymorphism	p.ALA328VAL	N/A
Swiss-Prot	VAR_067174	Disease	p.ARG438CYS	Leber congenital amaurosis 1 (LCA1)
Swiss-Prot	VAR_003437	Disease	p.ARG838CYS	Cone-rod dystrophy 6 (CORD6)
Swiss-Prot	VAR_067176	Disease	p.ARG660GLN	Leber congenital amaurosis 1 (LCA1)
Swiss-Prot	VAR_067181	Disease	p.ARG795GLN	Leber congenital amaurosis 1 (LCA1)
Swiss-Prot	VAR_015373	Disease	p.ARG838HIS	Cone-rod dystrophy 6 (CORD6)
Swiss-Prot	VAR_049254	Polymorphism	p.ARG331SER	N/A
Swiss-Prot	VAR_049255	Polymorphism	p.ARG602TRP	N/A
Swiss-Prot	VAR_049256	Polymorphism	p.ARG722TRP	N/A
Swiss-Prot	VAR_067179	Disease	p.ARG768TRP	Leber congenital amaurosis 1 (LCA1)
Swiss-Prot	VAR_067177	Disease	p.ASP728HIS	Leber congenital amaurosis 1 (LCA1)
Swiss-Prot	VAR_023770	Disease	p.CYS105TYR	Leber congenital amaurosis 1 (LCA1)
Swiss-Prot	VAR_003436	Disease	p.GLU837ASP	Cone-rod dystrophy 6 (CORD6)
Swiss-Prot	VAR_067170	Disease	p.GLU103VAL	Leber congenital amaurosis 1 (LCA1)
Swiss-Prot	VAR_042230	Polymorphism	p.GLY431ASP	N/A
Swiss-Prot	VAR_067178	Disease	p.ILE734ALA	Leber congenital amaurosis 1 (LCA1)
Swiss-Prot	VAR_009130	Disease	p.ILE573VAL	Leber congenital amaurosis 1 (LCA1)
Swiss-Prot	VAR_067172	Polymorphism	p.LEU325ARG	N/A
dbSNP	rs8069344	Polymorphism	p.LEU782HIS	N/A
Swiss-Prot	VAR_023771	Disease	p.LEU325PRO	Leber congenital amaurosis 1 (LCA1)
Swiss-Prot	VAR_009135	Disease	p.LEU954PRO	Leber congenital amaurosis 1 (LCA1)
Swiss-Prot	VAR_067180	Disease	p.MET784ARG	Leber congenital amaurosis 1 (LCA1)
Swiss-Prot	VAR_009131	Disease	p.PHE565SER	Leber congenital amaurosis 1 (LCA1)
dbSNP	rs28743021	Polymorphism	p.PRO575LEU	N/A
dbSNP	rs34598902	Polymorphism	p.PRO701SER	N/A
Swiss-Prot	VAR_009134	Disease	p.PRO858SER	Leber congenital amaurosis 1 (LCA1)
Swiss-Prot	VAR_067182	Disease	p.SER1007LEU	Leber congenital amaurosis 1 (LCA1)
Swiss-Prot	VAR_067171	Disease	p.THR312MET	Leber congenital amaurosis 1 (LCA1)
Swiss-Prot	VAR_067169	Disease	p.THR55MET	Leber congenital amaurosis 1 (LCA1)
dbSNP	rs9905402	Polymorphism	p.TRP21ARG	N/A
Swiss-Prot	VAR_067175	Disease	p.TRP640LEU	Leber congenital amaurosis 1 (LCA1)
Swiss-Prot	VAR_042231	Polymorphism	p.VAL507MET	N/A
OMIM	600179.0004	Disease	p.ALA52SER	LEBER CONGENITAL AMAUROSIS 1
OMIM	600179.0006	Disease	p.ARG838CYS	CONE-ROD DYSTROPHY 6
OMIM	600179.0008	Disease	p.ARG838HIS	CONE-ROD DYSTROPHY 6
OMIM	600179.0005	Disease	p.ARG838SER	CONE-ROD DYSTROPHY 6
OMIM	600179.0005	Disease	p.GLU837ASP	CONE-ROD DYSTROPHY 6
OMIM	600179.0010	Disease	p.ILE949THR	CONE-ROD DYSTROPHY 6
OMIM	600179.0001	Disease	p.PHE565SER	LEBER CONGENITAL AMAUROSIS 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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