Results for the protein: Q9NQW8

Results for the Protein: Q9NQW8

311033366

54714

CNGB3

NCBI, UniProt

CNGB3_HUMAN RecName: Full=Cyclic nucleotide-gated cation channel beta-3; AltName: Full=Cone photoreceptor cGMP-gated channel subunit beta; AltName: Full=Cyclic nucleotide-gated cation channel modulatory subunit; AltName: Full=Cyclic nucleotide-gated channel beta-3; Short=CNG channel beta-3

Known Diseases associated with this Protein:
  ACHROMATOPSIA 3
  ACHROMATOPSIA 3 (ACHM3)
  MACULAR DEGENERATION, JUVENILE
  STARGARDT DISEASE 1 (STGD1)

10

15

2

5

18

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Default View: Ion_trans - pfam00520 CAP_ED - cd00038 cNMP - smart00100 cNMP_binding - pfam00027	Swiss-Prot Protein: Q9NQW8 Identical to: NP_061971 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Ion_trans	pfam00520	2.8e-14	255	441
cNMP_binding	pfam00027	3.9e-17	542	633
cNMP	smart00100	5.8e-24	524	642

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs16916632	Polymorphism	p.ARG203GLN	N/A
Swiss-Prot	VAR_047613	Polymorphism	p.ARG403GLN	N/A
Swiss-Prot	VAR_047606	Polymorphism	p.ARG25HIS	N/A
Swiss-Prot	VAR_047607	Polymorphism	p.ASN27SER	N/A
Swiss-Prot	VAR_047616	Polymorphism	p.ASP494ASN	N/A
Swiss-Prot	VAR_047617	Polymorphism	p.ASP513TYR	N/A
dbSNP	rs6471482	Polymorphism	p.CYS234TRP	N/A
dbSNP	rs3735972	Polymorphism	p.GLU755GLY	N/A
Swiss-Prot	VAR_047611	Polymorphism	p.GLU199LYS	N/A
Swiss-Prot	VAR_047608	Polymorphism	p.GLY107ARG	N/A
Swiss-Prot	VAR_047619	Disease	p.GLY558CYS	Achromatopsia 3 (ACHM3)
dbSNP	rs13265557	Polymorphism	p.ILE307VAL	N/A
Swiss-Prot	VAR_047620	Disease	p.LEU595PHE	Achromatopsia 3 (ACHM3)
Swiss-Prot	VAR_047609	Disease	p.LYS148GLU	Achromatopsia 3 (ACHM3)
Swiss-Prot	VAR_047614	Polymorphism	p.MET466THR	N/A
Swiss-Prot	VAR_047618	Disease	p.PHE525ASN	Achromatopsia 3 (ACHM3)
Swiss-Prot	VAR_047612	Disease	p.PRO309LEU	Achromatopsia 3 (ACHM3)
Swiss-Prot	VAR_025525	Polymorphism	p.PRO750SER	N/A
Swiss-Prot	VAR_047610	Disease	p.SER156PHE	Achromatopsia 3 (ACHM3)
Swiss-Prot	VAR_018111	Disease	p.SER435PHE	Achromatopsia 3 (ACHM3)
dbSNP	rs4961206	Polymorphism	p.THR298PRO	N/A
Swiss-Prot	VAR_047621	Polymorphism	p.THR672PRO	N/A
Swiss-Prot	VAR_047615	Disease	p.TYR469ASP	Stargardt disease 1 (STGD1)
OMIM	605080.0001	Disease	p.SER435PHE	ACHROMATOPSIA 3
OMIM	605080.0006	Disease	p.TYR469ASP	MACULAR DEGENERATION, JUVENILE

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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