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Q9NQW8

- CNGB3_HUMAN

UniProt

Q9NQW8 - CNGB3_HUMAN

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Protein

Cyclic nucleotide-gated cation channel beta-3

Gene

CNGB3

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

Visual signal transduction is mediated by a G-protein coupled cascade using cGMP as second messenger. This protein can be activated by cGMP which leads to an opening of the cation channel and thereby causing a depolarization of rod photoreceptors. Induced a flickering channel gating, weakened the outward rectification in the presence of extracellular calcium, increased sensitivity for L-cis diltiazem and enhanced the cAMP efficiency of the channel when coexpressed with CNGA3 (By similarity). Essential for the generation of light-evoked electrical responses in the red-, green- and blue sensitive cones.By similarity1 Publication

Sites

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Binding sitei592 – 5921cGMPBy similarity
Binding sitei604 – 6041cGMPBy similarity

Regions

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Nucleotide bindingi532 – 676145cGMPBy similarityAdd
BLAST

GO - Molecular functioni

  1. cGMP binding Source: UniProt
  2. intracellular cAMP activated cation channel activity Source: RefGenome
  3. intracellular cGMP activated cation channel activity Source: UniProt
  4. voltage-gated potassium channel activity Source: RefGenome

GO - Biological processi

  1. cation transport Source: UniProt
  2. phototransduction, visible light Source: RefGenome
  3. potassium ion transmembrane transport Source: RefGenome
  4. regulation of membrane potential Source: RefGenome
  5. signal transduction Source: ProtInc
  6. transport Source: ProtInc
  7. visual perception Source: ProtInc
Complete GO annotation...

Keywords - Molecular functioni

Ion channel, Ligand-gated ion channel

Keywords - Biological processi

Ion transport, Sensory transduction, Transport, Vision

Keywords - Ligandi

cGMP, cGMP-binding, Nucleotide-binding

Names & Taxonomyi

Protein namesi
Recommended name:
Cyclic nucleotide-gated cation channel beta-3
Alternative name(s):
Cone photoreceptor cGMP-gated channel subunit beta
Cyclic nucleotide-gated cation channel modulatory subunit
Cyclic nucleotide-gated channel beta-3
Short name:
CNG channel beta-3
Gene namesi
Name:CNGB3
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 8

Organism-specific databases

HGNCiHGNC:2153. CNGB3.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 216216CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei217 – 23721Helical; Name=H1Sequence AnalysisAdd
BLAST
Topological domaini238 – 25013ExtracellularSequence AnalysisAdd
BLAST
Transmembranei251 – 27121Helical; Name=H2Sequence AnalysisAdd
BLAST
Topological domaini272 – 30231CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei303 – 32321Helical; Name=H3Sequence AnalysisAdd
BLAST
Topological domaini324 – 35936ExtracellularSequence AnalysisAdd
BLAST
Transmembranei360 – 38021Helical; Name=H4Sequence AnalysisAdd
BLAST
Topological domaini381 – 41737CytoplasmicSequence AnalysisAdd
BLAST
Transmembranei418 – 43821Helical; Name=H5Sequence AnalysisAdd
BLAST
Topological domaini439 – 50466ExtracellularSequence AnalysisAdd
BLAST
Transmembranei505 – 52521Helical; Name=H6Sequence AnalysisAdd
BLAST
Topological domaini526 – 809284CytoplasmicSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. integral component of plasma membrane Source: RefGenome
  2. photoreceptor outer segment Source: Ensembl
  3. transmembrane transporter complex Source: UniProt
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Involvement in diseasei

Stargardt disease 1 (STGD1) [MIM:248200]: A common hereditary macular degeneration. It is characterized by decreased central vision, atrophy of the macula and underlying retinal pigment epithelium, and frequent presence of prominent flecks in the posterior pole of the retina.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti469 – 4691Y → D in STGD1. 1 Publication
Corresponds to variant rs35365413 [ dbSNP | Ensembl ].
VAR_047615
Achromatopsia 3 (ACHM3) [MIM:262300]: An ocular stationary disorder due to the absence of functioning cone photoreceptors in the retina. It is characterized by total colorblindness, low visual acuity, photophobia and nystagmus. Achromatopsia type 3 patients manifest severe myopia.6 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry.
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti107 – 1071G → R in ACHM3; unknown pathological significance. 1 Publication
Corresponds to variant rs146688972 [ dbSNP | Ensembl ].
VAR_047608
Natural varianti148 – 1481K → E in ACHM3. 1 Publication
VAR_047609
Natural varianti156 – 1561S → F in ACHM3. 1 Publication
VAR_047610
Natural varianti199 – 1991E → K in ACHM3; unknown pathological significance. 1 Publication
Corresponds to variant rs114305748 [ dbSNP | Ensembl ].
VAR_047611
Natural varianti203 – 2031R → Q in ACHM3; unknown pathological significance. 1 Publication
Corresponds to variant rs16916632 [ dbSNP | Ensembl ].
VAR_025524
Natural varianti309 – 3091P → L in ACHM3. 1 Publication
VAR_047612
Natural varianti435 – 4351S → F in ACHM3. 3 Publications
VAR_018111
Natural varianti466 – 4661M → T in ACHM3; unknown pathological significance. 1 Publication
Corresponds to variant rs35010099 [ dbSNP | Ensembl ].
VAR_047614
Natural varianti494 – 4941D → N in ACHM3; unknown pathological significance. 1 Publication
VAR_047616
Natural varianti513 – 5131D → Y in ACHM3; unknown pathological significance. 1 Publication
VAR_047617
Natural varianti525 – 5251F → N in ACHM3; requires 2 nucleotide substitutions. 1 Publication
VAR_047618
Natural varianti558 – 5581G → C in ACHM3. 1 Publication
VAR_047619
Natural varianti595 – 5951L → F in ACHM3. 1 Publication
VAR_047620
Natural varianti672 – 6721T → P in ACHM3; unknown pathological significance. 1 Publication
VAR_047621
Natural varianti720 – 7267Missing in ACHM3. 1 Publication
VAR_047622

Keywords - Diseasei

Disease mutation, Stargardt disease

Organism-specific databases

MIMi248200. phenotype.
262300. phenotype.
Orphaneti49382. Achromatopsia.
1871. Progressive cone dystrophy.
827. Stargardt disease.
PharmGKBiPA26663.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 809809Cyclic nucleotide-gated cation channel beta-3PRO_0000219320Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi468 – 4681N-linked (GlcNAc...)Sequence Analysis

Keywords - PTMi

Glycoprotein

Proteomic databases

PaxDbiQ9NQW8.
PRIDEiQ9NQW8.

PTM databases

PhosphoSiteiQ9NQW8.

Expressioni

Tissue specificityi

Expressed specifically in the retina.1 Publication

Gene expression databases

BgeeiQ9NQW8.
CleanExiHS_CNGB3.
ExpressionAtlasiQ9NQW8. baseline.
GenevestigatoriQ9NQW8.

Interactioni

Subunit structurei

Tetramer formed of three CNGA3 and one CNGB3 modulatory subunits.2 Publications

Protein-protein interaction databases

STRINGi9606.ENSP00000316605.

Structurei

3D structure databases

ProteinModelPortaliQ9NQW8.
SMRiQ9NQW8. Positions 393-447, 465-636.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Contains 1 cyclic nucleotide-binding domain.PROSITE-ProRule annotation

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG289446.
GeneTreeiENSGT00760000118772.
HOGENOMiHOG000231425.
HOVERGENiHBG051038.
InParanoidiQ9NQW8.
KOiK04953.
OMAiKMPLTEY.
OrthoDBiEOG744T8M.
PhylomeDBiQ9NQW8.
TreeFamiTF318250.

Family and domain databases

Gene3Di2.60.120.10. 1 hit.
InterProiIPR018490. cNMP-bd-like.
IPR018488. cNMP-bd_CS.
IPR000595. cNMP-bd_dom.
IPR014710. RmlC-like_jellyroll.
[Graphical view]
PfamiPF00027. cNMP_binding. 1 hit.
[Graphical view]
SMARTiSM00100. cNMP. 1 hit.
[Graphical view]
SUPFAMiSSF51206. SSF51206. 1 hit.
PROSITEiPS00888. CNMP_BINDING_1. 1 hit.
PS00889. CNMP_BINDING_2. 1 hit.
PS50042. CNMP_BINDING_3. 1 hit.
[Graphical view]

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q9NQW8-1) [UniParc]FASTAAdd to Basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MFKSLTKVNK VKPIGENNEN EQSSRRNEEG SHPSNQSQQT TAQEENKGEE
60 70 80 90 100
KSLKTKSTPV TSEEPHTNIQ DKLSKKNSSG DLTTNPDPQN AAEPTGTVPE
110 120 130 140 150
QKEMDPGKEG PNSPQNKPPA APVINEYADA QLHNLVKRMR QRTALYKKKL
160 170 180 190 200
VEGDLSSPEA SPQTAKPTAV PPVKESDDKP TEHYYRLLWF KVKKMPLTEY
210 220 230 240 250
LKRIKLPNSI DSYTDRLYLL WLLLVTLAYN WNCCFIPLRL VFPYQTADNI
260 270 280 290 300
HYWLIADIIC DIIYLYDMLF IQPRLQFVRG GDIIVDSNEL RKHYRTSTKF
310 320 330 340 350
QLDVASIIPF DICYLFFGFN PMFRANRMLK YTSFFEFNHH LESIMDKAYI
360 370 380 390 400
YRVIRTTGYL LFILHINACV YYWASNYEGI GTTRWVYDGE GNEYLRCYYW
410 420 430 440 450
AVRTLITIGG LPEPQTLFEI VFQLLNFFSG VFVFSSLIGQ MRDVIGAATA
460 470 480 490 500
NQNYFRACMD DTIAYMNNYS IPKLVQKRVR TWYEYTWDSQ RMLDESDLLK
510 520 530 540 550
TLPTTVQLAL AIDVNFSIIS KVDLFKGCDT QMIYDMLLRL KSVLYLPGDF
560 570 580 590 600
VCKKGEIGKE MYIIKHGEVQ VLGGPDGTKV LVTLKAGSVF GEISLLAAGG
610 620 630 640 650
GNRRTANVVA HGFANLLTLD KKTLQEILVH YPDSERILMK KARVLLKQKA
660 670 680 690 700
KTAEATPPRK DLALLFPPKE ETPKLFKTLL GGTGKASLAR LLKLKREQAA
710 720 730 740 750
QKKENSEGGE EEGKENEDKQ KENEDKQKEN EDKGKENEDK DKGREPEEKP
760 770 780 790 800
LDRPECTASP IAVEEEPHSV RRTVLPRGTS RQSLIISMAP SAEGGEEVLT

IEVKEKAKQ
Length:809
Mass (Da):92,167
Last modified:November 2, 2010 - v2
Checksum:iD16EE71A6149BDB5
GO
Isoform 2 (identifier: Q9NQW8-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     590-594: Missing.

Note: No experimental confirmation available.

Show »
Length:804
Mass (Da):91,633
Checksum:i803A5D65F2CEBDE2
GO

Sequence cautioni

The sequence AAF80179.1 differs from that shown. Reason: Erroneous initiation. Translation N-terminally extended.Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti25 – 251R → H.1 Publication
VAR_047606
Natural varianti27 – 271N → S.1 Publication
Corresponds to variant rs35807406 [ dbSNP | Ensembl ].
VAR_047607
Natural varianti107 – 1071G → R in ACHM3; unknown pathological significance. 1 Publication
Corresponds to variant rs146688972 [ dbSNP | Ensembl ].
VAR_047608
Natural varianti148 – 1481K → E in ACHM3. 1 Publication
VAR_047609
Natural varianti156 – 1561S → F in ACHM3. 1 Publication
VAR_047610
Natural varianti199 – 1991E → K in ACHM3; unknown pathological significance. 1 Publication
Corresponds to variant rs114305748 [ dbSNP | Ensembl ].
VAR_047611
Natural varianti203 – 2031R → Q in ACHM3; unknown pathological significance. 1 Publication
Corresponds to variant rs16916632 [ dbSNP | Ensembl ].
VAR_025524
Natural varianti234 – 2341C → W.1 Publication
Corresponds to variant rs6471482 [ dbSNP | Ensembl ].
VAR_018109
Natural varianti298 – 2981T → P.2 Publications
Corresponds to variant rs4961206 [ dbSNP | Ensembl ].
VAR_018110
Natural varianti307 – 3071I → V.2 Publications
Corresponds to variant rs13265557 [ dbSNP | Ensembl ].
VAR_024418
Natural varianti309 – 3091P → L in ACHM3. 1 Publication
VAR_047612
Natural varianti403 – 4031R → Q in macular degeneration. 1 Publication
Corresponds to variant rs147876778 [ dbSNP | Ensembl ].
VAR_047613
Natural varianti435 – 4351S → F in ACHM3. 3 Publications
VAR_018111
Natural varianti466 – 4661M → T in ACHM3; unknown pathological significance. 1 Publication
Corresponds to variant rs35010099 [ dbSNP | Ensembl ].
VAR_047614
Natural varianti469 – 4691Y → D in STGD1. 1 Publication
Corresponds to variant rs35365413 [ dbSNP | Ensembl ].
VAR_047615
Natural varianti494 – 4941D → N in ACHM3; unknown pathological significance. 1 Publication
VAR_047616
Natural varianti513 – 5131D → Y in ACHM3; unknown pathological significance. 1 Publication
VAR_047617
Natural varianti525 – 5251F → N in ACHM3; requires 2 nucleotide substitutions. 1 Publication
VAR_047618
Natural varianti558 – 5581G → C in ACHM3. 1 Publication
VAR_047619
Natural varianti595 – 5951L → F in ACHM3. 1 Publication
VAR_047620
Natural varianti672 – 6721T → P in ACHM3; unknown pathological significance. 1 Publication
VAR_047621
Natural varianti720 – 7267Missing in ACHM3. 1 Publication
VAR_047622
Natural varianti750 – 7501P → S.
Corresponds to variant rs3735971 [ dbSNP | Ensembl ].
VAR_025525
Natural varianti755 – 7551E → G.2 Publications
Corresponds to variant rs3735972 [ dbSNP | Ensembl ].
VAR_018112

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei590 – 5945Missing in isoform 2. 1 PublicationVSP_009742

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF272900 mRNA. Translation: AAF86274.1.
AC013751 Genomic DNA. No translation available.
AC090572 Genomic DNA. No translation available.
AF228520 mRNA. Translation: AAF80179.1. Different initiation.
CCDSiCCDS6244.1. [Q9NQW8-1]
RefSeqiNP_061971.3. NM_019098.4. [Q9NQW8-1]
UniGeneiHs.154433.

Genome annotation databases

EnsembliENST00000320005; ENSP00000316605; ENSG00000170289. [Q9NQW8-1]
GeneIDi54714.
KEGGihsa:54714.
UCSCiuc003ydx.3. human. [Q9NQW8-1]
uc010maj.3. human. [Q9NQW8-2]

Polymorphism databases

DMDMi311033366.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF272900 mRNA. Translation: AAF86274.1 .
AC013751 Genomic DNA. No translation available.
AC090572 Genomic DNA. No translation available.
AF228520 mRNA. Translation: AAF80179.1 . Different initiation.
CCDSi CCDS6244.1. [Q9NQW8-1 ]
RefSeqi NP_061971.3. NM_019098.4. [Q9NQW8-1 ]
UniGenei Hs.154433.

3D structure databases

ProteinModelPortali Q9NQW8.
SMRi Q9NQW8. Positions 393-447, 465-636.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

STRINGi 9606.ENSP00000316605.

PTM databases

PhosphoSitei Q9NQW8.

Polymorphism databases

DMDMi 311033366.

Proteomic databases

PaxDbi Q9NQW8.
PRIDEi Q9NQW8.

Protocols and materials databases

Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000320005 ; ENSP00000316605 ; ENSG00000170289 . [Q9NQW8-1 ]
GeneIDi 54714.
KEGGi hsa:54714.
UCSCi uc003ydx.3. human. [Q9NQW8-1 ]
uc010maj.3. human. [Q9NQW8-2 ]

Organism-specific databases

CTDi 54714.
GeneCardsi GC08M087566.
GeneReviewsi CNGB3.
H-InvDB HIX0034272.
HGNCi HGNC:2153. CNGB3.
MIMi 248200. phenotype.
262300. phenotype.
605080. gene.
neXtProti NX_Q9NQW8.
Orphaneti 49382. Achromatopsia.
1871. Progressive cone dystrophy.
827. Stargardt disease.
PharmGKBi PA26663.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG289446.
GeneTreei ENSGT00760000118772.
HOGENOMi HOG000231425.
HOVERGENi HBG051038.
InParanoidi Q9NQW8.
KOi K04953.
OMAi KMPLTEY.
OrthoDBi EOG744T8M.
PhylomeDBi Q9NQW8.
TreeFami TF318250.

Miscellaneous databases

GeneWikii Cyclic_nucleotide_gated_channel_beta_3.
GenomeRNAii 54714.
NextBioi 57273.
PROi Q9NQW8.
SOURCEi Search...

Gene expression databases

Bgeei Q9NQW8.
CleanExi HS_CNGB3.
ExpressionAtlasi Q9NQW8. baseline.
Genevestigatori Q9NQW8.

Family and domain databases

Gene3Di 2.60.120.10. 1 hit.
InterProi IPR018490. cNMP-bd-like.
IPR018488. cNMP-bd_CS.
IPR000595. cNMP-bd_dom.
IPR014710. RmlC-like_jellyroll.
[Graphical view ]
Pfami PF00027. cNMP_binding. 1 hit.
[Graphical view ]
SMARTi SM00100. cNMP. 1 hit.
[Graphical view ]
SUPFAMi SSF51206. SSF51206. 1 hit.
PROSITEi PS00888. CNMP_BINDING_1. 1 hit.
PS00889. CNMP_BINDING_2. 1 hit.
PS50042. CNMP_BINDING_3. 1 hit.
[Graphical view ]
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8Q21."
    Kohl S., Baumann B., Broghammer M., Jaegle H., Sieving P., Kellner U., Spegal R., Anastasi M., Zrenner E., Sharpe L.T., Wissinger B.
    Hum. Mol. Genet. 9:2107-2116(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), TISSUE SPECIFICITY, VARIANT ACHM3 PHE-435, VARIANTS TRP-234; PRO-298 AND GLY-755.
  2. "DNA sequence and analysis of human chromosome 8."
    Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M., Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L., Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S., Asakawa T.
    , Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A., Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III, Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K., Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P., Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H., Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B., O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K., Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L., Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G., Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W., Platzer M., Shimizu N., Lander E.S.
    Nature 439:331-335(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  3. "Genetic basis of total colourblindness among the Pingelapese islanders."
    Sundin O.H., Yang J.-M., Li Y., Zhu D., Hurd J.N., Mitchell T.N., Silva E.D., Maumenee I.H.
    Nat. Genet. 25:289-293(2000) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 114-809 (ISOFORM 2), FUNCTION, SUBUNIT, VARIANT ACHM3 PHE-435.
    Tissue: Retina.
  4. "Molecular mechanism for 3:1 subunit stoichiometry of rod cyclic nucleotide-gated ion channels."
    Shuart N.G., Haitin Y., Camp S.S., Black K.D., Zagotta W.N.
    Nat. Commun. 2:457-457(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: SUBUNIT.
  5. "A frameshift insertion in the cone cyclic nucleotide gated cation channel causes complete achromatopsia in a consanguineous family from a rural isolate."
    Rojas C.V., Maria L.S., Santos J.L., Cortes F., Alliende M.A.
    Eur. J. Hum. Genet. 10:638-642(2002) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT ACHM3 GLU-148.
  6. Cited for: VARIANTS ACHM3 VAL-307 AND ASN-525.
  7. Cited for: VARIANTS ACHM3 PHE-156; LEU-309; PHE-435 AND 720-GLN--LYS-726 DEL.
  8. "Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases."
    Nishiguchi K.M., Sandberg M.A., Gorji N., Berson E.L., Dryja T.P.
    Hum. Mutat. 25:248-258(2005) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT MACULAR DEGENERATION GLN-403, VARIANT STGD1 ASP-469, VARIANTS ACHM3 ARG-107; LYS-199; GLN-203; THR-466; ASN-494; TYR-513; CYS-558; PHE-595 AND PRO-672, VARIANTS HIS-25; SER-27; PRO-298; VAL-307 AND GLY-755.

Entry informationi

Entry nameiCNGB3_HUMAN
AccessioniPrimary (citable) accession number: Q9NQW8
Secondary accession number(s): C9JA51, Q9NRE9
Entry historyi
Integrated into UniProtKB/Swiss-Prot: March 29, 2004
Last sequence update: November 2, 2010
Last modified: November 26, 2014
This is version 119 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 8
    Human chromosome 8: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3