Results for the protein: Q16281

Results for the Protein: Q16281

13959682

1261

CNGA3

NCBI, UniProt

CNGA3_HUMAN RecName: Full=Cyclic nucleotide-gated cation channel alpha-3; AltName: Full=Cone photoreceptor cGMP-gated channel subunit alpha; AltName: Full=Cyclic nucleotide-gated channel alpha-3; Short=CNG channel alpha-3; Short=CNG-3; Short=CNG3

Known Diseases associated with this Protein:
ACHROMATOPSIA 2 (ACHM2)
ROD MONOCHROMACY

57

5

10

1

51

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Default View: cNMP - smart00100	Swiss-Prot Protein: Q16281 Identical to: NP_001289 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_047591	Disease	p.ALA469THR	Achromatopsia 2 (ACHM2)
Swiss-Prot	VAR_047579	Disease	p.ARG277CYS	Achromatopsia 2 (ACHM2)
Swiss-Prot	VAR_047588	Disease	p.ARG427CYS	Achromatopsia 2 (ACHM2)
Swiss-Prot	VAR_010904	Disease	p.ARG283GLN	Achromatopsia 2 (ACHM2)
Swiss-Prot	VAR_047580	Disease	p.ARG277HIS	Achromatopsia 2 (ACHM2)
Swiss-Prot	VAR_047600	Disease	p.ARG563HIS	Achromatopsia 2 (ACHM2)
Swiss-Prot	VAR_047602	Disease	p.ARG569HIS	Achromatopsia 2 (ACHM2)
Swiss-Prot	VAR_047572	Disease	p.ARG223TRP	Achromatopsia 2 (ACHM2)
Swiss-Prot	VAR_010905	Disease	p.ARG283TRP	Achromatopsia 2 (ACHM2)
Swiss-Prot	VAR_010910	Disease	p.ARG410TRP	Achromatopsia 2 (ACHM2)
Swiss-Prot	VAR_047589	Disease	p.ARG436TRP	Achromatopsia 2 (ACHM2)
Swiss-Prot	VAR_047590	Disease	p.ARG439TRP	Achromatopsia 2 (ACHM2)
Swiss-Prot	VAR_047592	Disease	p.ASN471SER	Achromatopsia 2 (ACHM2)
Swiss-Prot	VAR_047568	Disease	p.ASN182TYR	Achromatopsia 2 (ACHM2)
Swiss-Prot	VAR_047576	Disease	p.ASP260ASN	Achromatopsia 2 (ACHM2)
Swiss-Prot	VAR_047566	Disease	p.ASP162VAL	Achromatopsia 2 (ACHM2)
Swiss-Prot	VAR_047593	Disease	p.ASP485VAL	Achromatopsia 2 (ACHM2)
Swiss-Prot	VAR_047594	Disease	p.CYS510SER	Achromatopsia 2 (ACHM2)
Swiss-Prot	VAR_047570	Disease	p.CYS191TYR	Achromatopsia 2 (ACHM2)
Swiss-Prot	VAR_047571	Disease	p.GLU194LYS	Achromatopsia 2 (ACHM2)
dbSNP	rs2271041	Polymorphism	p.GLU198LYS	N/A
Swiss-Prot	VAR_047574	Disease	p.GLU228LYS	Achromatopsia 2 (ACHM2)
Swiss-Prot	VAR_047604	Disease	p.GLU590LYS	Achromatopsia 2 (ACHM2)
Swiss-Prot	VAR_047605	Disease	p.GLU593LYS	Achromatopsia 2 (ACHM2)
Swiss-Prot	VAR_047599	Disease	p.GLY548ARG	Achromatopsia 2 (ACHM2)
Swiss-Prot	VAR_010909	Disease	p.GLY557ARG	Achromatopsia 2 (ACHM2)
Swiss-Prot	VAR_047578	Disease	p.GLY267ASP	Achromatopsia 2 (ACHM2)
Swiss-Prot	VAR_047598	Disease	p.GLY525ASP	Achromatopsia 2 (ACHM2)
Swiss-Prot	VAR_047595	Disease	p.GLY513GLU	Achromatopsia 2 (ACHM2)
Swiss-Prot	VAR_047596	Disease	p.GLY516GLU	Achromatopsia 2 (ACHM2)
Swiss-Prot	VAR_047597	Disease	p.ILE522THR	Achromatopsia 2 (ACHM2)
Swiss-Prot	VAR_066860	Polymorphism	p.LEU527MET	N/A
Swiss-Prot	VAR_047569	Disease	p.LEU186PHE	Achromatopsia 2 (ACHM2)
Swiss-Prot	VAR_047587	Disease	p.MET406THR	Achromatopsia 2 (ACHM2)
Swiss-Prot	VAR_010908	Disease	p.PHE547LEU	Achromatopsia 2 (ACHM2)
Swiss-Prot	VAR_047575	Disease	p.PHE249SER	Achromatopsia 2 (ACHM2)
Swiss-Prot	VAR_047585	Disease	p.PHE380SER	Achromatopsia 2 (ACHM2)
Swiss-Prot	VAR_010903	Disease	p.PRO163LEU	Achromatopsia 2 (ACHM2)
Swiss-Prot	VAR_047565	Polymorphism	p.PRO48LEU	N/A
Swiss-Prot	VAR_047584	Disease	p.PRO372SER	Achromatopsia 2 (ACHM2)
Swiss-Prot	VAR_047582	Disease	p.SER341PRO	Achromatopsia 2 (ACHM2)
Swiss-Prot	VAR_047586	Disease	p.SER401PRO	Achromatopsia 2 (ACHM2)
Swiss-Prot	VAR_047573	Disease	p.THR224ARG	Achromatopsia 2 (ACHM2)
Swiss-Prot	VAR_010906	Disease	p.THR291ARG	Achromatopsia 2 (ACHM2)
Swiss-Prot	VAR_010902	Polymorphism	p.THR153MET	N/A
Swiss-Prot	VAR_047601	Disease	p.THR565MET	Achromatopsia 2 (ACHM2)
Swiss-Prot	VAR_047583	Disease	p.THR369SER	Achromatopsia 2 (ACHM2)
Swiss-Prot	VAR_069398	Polymorphism	p.TRP335CYS	N/A
Swiss-Prot	VAR_047577	Disease	p.TYR263ASP	Achromatopsia 2 (ACHM2)
Swiss-Prot	VAR_047567	Disease	p.TYR181CYS	Achromatopsia 2 (ACHM2)
Swiss-Prot	VAR_047603	Disease	p.TYR573CYS	Achromatopsia 2 (ACHM2)
Swiss-Prot	VAR_010907	Disease	p.VAL529MET	Achromatopsia 2 (ACHM2)
OMIM	600053.0009	Disease	p.ARG277CYS	ROD MONOCHROMACY
OMIM	600053.0003	Disease	p.ARG283GLN	ROD MONOCHROMACY
OMIM	600053.0002	Disease	p.ARG283TRP	ROD MONOCHROMACY
OMIM	600053.0007	Disease	p.ARG411TRP	ROD MONOCHROMACY
OMIM	600053.0010	Disease	p.ARG436TRP	ROD MONOCHROMACY
OMIM	600053.0004	Disease	p.GLY557ARG	ROD MONOCHROMACY
OMIM	600053.0006	Disease	p.PHE547LEU	ROD MONOCHROMACY
OMIM	600053.0001	Disease	p.PRO163LEU	ROD MONOCHROMACY
OMIM	600053.0005	Disease	p.THR291ARG	ROD MONOCHROMACY
OMIM	600053.0008	Disease	p.VAL529MET	ROD MONOCHROMACY

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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