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Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta (GMP-PDE beta) (EC 3.1.4.35)

 PDE6B_HUMAN             Reviewed;         854 AA.
P35913; B7Z9T9; E7ETT3; Q53XN5; Q9BWH5; Q9UD49;
01-JUN-1994, integrated into UniProtKB/Swiss-Prot.
14-APR-2009, sequence version 2.
25-OCT-2017, entry version 179.
RecName: Full=Rod cGMP-specific 3',5'-cyclic phosphodiesterase subunit beta;
Short=GMP-PDE beta;
EC=3.1.4.35;
Flags: Precursor;
Name=PDE6B; Synonyms=PDEB;
Homo sapiens (Human).
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi;
Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini;
Catarrhini; Hominidae; Homo.
NCBI_TaxID=9606;
[1]
NUCLEOTIDE SEQUENCE [GENOMIC DNA].
PubMed=1720239; DOI=10.1093/nar/19.22.6263;
Weber B., Riess O., Hutchinson G., Collins C., Lin B., Kowbel D.,
Andrew S., Schappert K.T., Hayden M.R.;
"Genomic organization and complete sequence of the human gene encoding
the beta-subunit of the cGMP phosphodiesterase and its localisation to
4p16.3.";
Nucleic Acids Res. 19:6263-6268(1991).
[2]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND VARIANT ILE-320.
TISSUE=Retinal rod cell;
PubMed=1338685;
Khramtsov N.V., Feshchenko E.A., Suslova V.A., Terpugov B.E.,
Rakitina T.V., Atabekova N.V., Shmukler B.E., Lipkin V.M.;
"Structural studies of cDNA and the gene for the beta-subunit of cGMP
phosphodiesterase from human retina.";
Bioorg. Khim. 18:1551-1554(1992).
[3]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND VARIANT ILE-320.
TISSUE=Retina;
PubMed=1322354; DOI=10.1016/0888-7543(92)90144-H;
Collins C., Hutchinson G., Kowbel D., Riess O., Weber B., Hayden M.R.;
"The human beta-subunit of rod photoreceptor cGMP phosphodiesterase:
complete retinal cDNA sequence and evidence for expression in brain.";
Genomics 13:698-704(1992).
[4]
NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
TISSUE=Retina;
PubMed=8394243; DOI=10.1016/0014-5793(93)81003-I;
Khramtsov N.V., Feshchenko E.A., Suslova V.A., Shmukler B.E.,
Terpugov B.E., Rakitina T.V., Atabekova N.V., Lipkin V.M.;
"The human rod photoreceptor cGMP phosphodiesterase beta-subunit.
Structural studies of its cDNA and gene.";
FEBS Lett. 327:275-278(1993).
[5]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND VARIANTS
ILE-320 AND ASP-654.
Kalnine N., Chen X., Rolfs A., Halleck A., Hines L., Eisenstein S.,
Koundinya M., Raphael J., Moreira D., Kelley T., LaBaer J., Lin Y.,
Phelan M., Farmer A.;
"Cloning of human full-length CDSs in BD Creator(TM) system donor
vector.";
Submitted (AUG-2003) to the EMBL/GenBank/DDBJ databases.
[6]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3), AND VARIANT
ILE-320.
TISSUE=Hippocampus;
PubMed=14702039; DOI=10.1038/ng1285;
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A.,
Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M.,
Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y.,
Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M.,
Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K.,
Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S.,
Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J.,
Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y.,
Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N.,
Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S.,
Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y.,
Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T.,
Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y.,
Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S.,
Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T.,
Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M.,
Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T.,
Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K.,
Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R.,
Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.;
"Complete sequencing and characterization of 21,243 full-length human
cDNAs.";
Nat. Genet. 36:40-45(2004).
[7]
NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
PubMed=15815621; DOI=10.1038/nature03466;
Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H.,
Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M.,
Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E.,
Kremitzki C., Oddy L., Du H., Sun H., Bradshaw-Cordum H., Ali J.,
Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C.,
Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J.,
Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A.,
Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K.,
Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M.,
Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K.,
McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C.,
Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N.,
Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M.,
Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E.,
Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P.,
Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A.,
Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A.,
Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T.,
Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D.,
Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X.,
McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C.,
Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S.,
Miller W., Eichler E.E., Bork P., Suyama M., Torrents D.,
Waterston R.H., Wilson R.K.;
"Generation and annotation of the DNA sequences of human chromosomes 2
and 4.";
Nature 434:724-731(2005).
[8]
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2), AND VARIANTS
ILE-320 AND ASP-654.
TISSUE=Eye;
PubMed=15489334; DOI=10.1101/gr.2596504;
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA
project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
[9]
NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 197-297, AND VARIANT CSNBAD2
ASN-258.
PubMed=8075643; DOI=10.1038/ng0594-64;
Gal A., Orth U., Baehr W., Schwinger E., Rosenberg T.;
"Heterozygous missense mutation in the rod cGMP phosphodiesterase
beta-subunit gene in autosomal dominant stationary night blindness.";
Nat. Genet. 7:64-68(1994).
[10]
ERRATUM.
PubMed=7951329;
Gal A., Orth U., Baehr W., Schwinger E., Rosenberg T.;
Nat. Genet. 7:551-551(1994).
[11]
NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 238-854, AND VARIANT ILE-320.
TISSUE=Retinal rod cell;
PubMed=8768262;
Suslova V.A., Suslov O.N., Kim E.E., Lipkin V.M.;
"Organization of the gene for the beta-subunit of human photoreceptor
cyclic GMP phosphodiesterase.";
Bioorg. Khim. 22:256-263(1996).
[12]
VARIANT RP40 TYR-557.
PubMed=8394174; DOI=10.1038/ng0693-130;
McLaughlin M.E., Sandberg M.A., Berson E.L., Dryja T.P.;
"Recessive mutations in the gene encoding the beta-subunit of rod
phosphodiesterase in patients with retinitis pigmentosa.";
Nat. Genet. 4:130-134(1993).
[13]
VARIANT RP40 ASP-576.
PubMed=8595886; DOI=10.1006/geno.1995.0001;
Danciger M., Blaney J., Gao Y.Q., Zhao D.Y., Heckenlively J.R.,
Jacobson S.G., Farber D.B.;
"Mutations in the PDE6B gene in autosomal recessive retinitis
pigmentosa.";
Genomics 30:1-7(1995).
[14]
VARIANT RP40 HIS-228, AND VARIANTS LYS-166 AND HIS-212.
PubMed=8698075; DOI=10.1006/exer.1996.0019;
Gao Y.Q., Danciger M., Zhao D.Y., Blaney J., Piriev N.I., Shih J.,
Jacobson S.G., Heckenlively J.H., Farber D.B.;
"Screening of the PDE6B gene in patients with autosomal dominant
retinitis pigmentosa.";
Exp. Eye Res. 62:149-154(1996).
[15]
VARIANT RP40 ARG-699.
PubMed=8557257; DOI=10.1007/BF00218829;
Valverde D., Solans T., Grinberg D., Balcells S., Vilageliu L.,
Bayes M., Chivelet P., Besmond C., Goossens M., Gonzalez-Duarte R.,
Baiget M.;
"A novel mutation in exon 17 of the beta-subunit of rod
phosphodiesterase in two RP sisters of a consanguineous family.";
Hum. Genet. 97:35-38(1996).
[16]
VARIANT RP40 GLN-552.
PubMed=8956055; DOI=10.1002/humu.1380080403;
Valverde D., Baiget M., Seminago R., del Rio E., Garcia-Sandoval B.,
del Rio T., Bayes M., Balcells S., Martinez A., Grinberg D., Ayuso C.;
"Identification of a novel R552Q mutation in exon 13 of the beta-
subunit of rod phosphodiesterase gene in a Spanish family with
autosomal recessive retinitis pigmentosa.";
Hum. Mutat. 8:393-394(1996).
[17]
VARIANT RP40 ASN-535.
PubMed=9543643; DOI=10.1076/ceyr.17.3.332.5214;
Saga M., Mashima Y., Akeo K., Kudoh J., Oguchi Y., Shimizu N.;
"A novel homozygous Ile535Asn mutation in the rod cGMP
phosphodiesterase beta-subunit gene in two brothers of a Japanese
family with autosomal recessive retinitis pigmentosa.";
Curr. Eye Res. 17:332-335(1998).
[18]
VARIANTS RP40 HIS-100 AND ASN-776.
PubMed=22334370; DOI=10.1002/humu.22045;
Neveling K., Collin R.W., Gilissen C., van Huet R.A., Visser L.,
Kwint M.P., Gijsen S.J., Zonneveld M.N., Wieskamp N., de Ligt J.,
Siemiatkowska A.M., Hoefsloot L.H., Buckley M.F., Kellner U.,
Branham K.E., den Hollander A.I., Hoischen A., Hoyng C.,
Klevering B.J., van den Born L.I., Veltman J.A., Cremers F.P.,
Scheffer H.;
"Next-generation genetic testing for retinitis pigmentosa.";
Hum. Mutat. 33:963-972(2012).
-!- FUNCTION: This protein participates in processes of transmission
and amplification of the visual signal. Necessary for the
formation of a functional phosphodiesterase holoenzyme.
-!- CATALYTIC ACTIVITY: Guanosine 3',5'-cyclic phosphate + H(2)O =
guanosine 5'-phosphate.
-!- COFACTOR:
Name=a divalent metal cation; Xref=ChEBI:CHEBI:60240;
Evidence={ECO:0000250};
Note=Binds 2 divalent metal cations per subunit. Site 1 may
preferentially bind zinc ions, while site 2 has a preference for
magnesium and/or manganese ions. {ECO:0000250};
-!- SUBUNIT: Oligomer composed of two catalytic chains (alpha and
beta), an inhibitory chain (gamma) and the delta chain.
-!- SUBCELLULAR LOCATION: Membrane; Lipid-anchor.
-!- ALTERNATIVE PRODUCTS:
Event=Alternative splicing; Named isoforms=3;
Name=1;
IsoId=P35913-1; Sequence=Displayed;
Name=2;
IsoId=P35913-2; Sequence=VSP_036884;
Name=3;
IsoId=P35913-3; Sequence=VSP_044919;
Note=No experimental confirmation available.;
-!- DISEASE: Retinitis pigmentosa 40 (RP40) [MIM:613801]: A retinal
dystrophy belonging to the group of pigmentary retinopathies.
Retinitis pigmentosa is characterized by retinal pigment deposits
visible on fundus examination and primary loss of rod
photoreceptor cells followed by secondary loss of cone
photoreceptors. Patients typically have night vision blindness and
loss of midperipheral visual field. As their condition progresses,
they lose their far peripheral visual field and eventually central
vision as well. {ECO:0000269|PubMed:22334370,
ECO:0000269|PubMed:8394174, ECO:0000269|PubMed:8557257,
ECO:0000269|PubMed:8595886, ECO:0000269|PubMed:8698075,
ECO:0000269|PubMed:8956055, ECO:0000269|PubMed:9543643}. Note=The
disease is caused by mutations affecting the gene represented in
this entry.
-!- DISEASE: Night blindness, congenital stationary, autosomal
dominant 2 (CSNBAD2) [MIM:163500]: A non-progressive retinal
disorder characterized by impaired night vision, often associated
with nystagmus and myopia. {ECO:0000269|PubMed:8075643}. Note=The
disease is caused by mutations affecting the gene represented in
this entry.
-!- SIMILARITY: Belongs to the cyclic nucleotide phosphodiesterase
family. {ECO:0000305}.
-!- WEB RESOURCE: Name=Mutations of the PDE6A/B/G genes; Note=Retina
International's Scientific Newsletter;
URL="http://www.retina-international.org/files/sci-news/pdemut.htm";
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EMBL; X62692; CAA44569.1; -; Genomic_DNA.
EMBL; X62693; CAA44569.1; JOINED; Genomic_DNA.
EMBL; X62694; CAA44569.1; JOINED; Genomic_DNA.
EMBL; X62695; CAA44569.1; JOINED; Genomic_DNA.
EMBL; X66142; CAA46932.1; -; mRNA.
EMBL; S41458; AAB22690.1; -; mRNA.
EMBL; BT009794; AAP88796.1; -; mRNA.
EMBL; AK316054; BAH14425.1; -; mRNA.
EMBL; AC107464; -; NOT_ANNOTATED_CDS; Genomic_DNA.
EMBL; BC000249; AAH00249.1; -; mRNA.
EMBL; X90587; CAA62215.1; -; Genomic_DNA.
EMBL; X90588; CAA62215.1; JOINED; Genomic_DNA.
EMBL; X90589; CAA62215.1; JOINED; Genomic_DNA.
EMBL; X90590; CAA62215.1; JOINED; Genomic_DNA.
CCDS; CCDS33932.1; -. [P35913-1]
CCDS; CCDS46993.1; -. [P35913-3]
CCDS; CCDS54703.1; -. [P35913-2]
PIR; A42828; A42828.
RefSeq; NP_000274.2; NM_000283.3.
RefSeq; NP_001138763.1; NM_001145291.1.
RefSeq; NP_001138764.1; NM_001145292.1.
RefSeq; XP_016863774.1; XM_017008285.1. [P35913-3]
RefSeq; XP_016863775.1; XM_017008286.1. [P35913-3]
UniGene; Hs.623810; -.
UniGene; Hs.654544; -.
ProteinModelPortal; P35913; -.
SMR; P35913; -.
BioGrid; 111184; 1.
STRING; 9606.ENSP00000420295; -.
BindingDB; P35913; -.
ChEMBL; CHEMBL3430880; -.
DrugBank; DB00201; Caffeine.
iPTMnet; P35913; -.
PhosphoSitePlus; P35913; -.
BioMuta; PDE6B; -.
DMDM; 226693550; -.
PaxDb; P35913; -.
PeptideAtlas; P35913; -.
PRIDE; P35913; -.
DNASU; 5158; -.
Ensembl; ENST00000255622; ENSP00000255622; ENSG00000133256. [P35913-2]
Ensembl; ENST00000429163; ENSP00000406334; ENSG00000133256. [P35913-3]
Ensembl; ENST00000496514; ENSP00000420295; ENSG00000133256. [P35913-1]
GeneID; 5158; -.
KEGG; hsa:5158; -.
UCSC; uc003gao.5; human. [P35913-1]
CTD; 5158; -.
DisGeNET; 5158; -.
EuPathDB; HostDB:ENSG00000133256.12; -.
GeneCards; PDE6B; -.
GeneReviews; PDE6B; -.
H-InvDB; HIX0031458; -.
H-InvDB; HIX0031649; -.
HGNC; HGNC:8786; PDE6B.
HPA; HPA054148; -.
HPA; HPA059929; -.
MalaCards; PDE6B; -.
MIM; 163500; phenotype.
MIM; 180072; gene.
MIM; 613801; phenotype.
neXtProt; NX_P35913; -.
OpenTargets; ENSG00000133256; -.
Orphanet; 215; Congenital stationary night blindness.
Orphanet; 791; Retinitis pigmentosa.
PharmGKB; PA33134; -.
eggNOG; KOG3689; Eukaryota.
eggNOG; ENOG410XRI7; LUCA.
GeneTree; ENSGT00760000119066; -.
HOGENOM; HOG000007069; -.
HOVERGEN; HBG053539; -.
KO; K13756; -.
OMA; SWVEYLS; -.
OrthoDB; EOG091G01RK; -.
PhylomeDB; P35913; -.
TreeFam; TF316499; -.
Reactome; R-HSA-2485179; Activation of the phototransduction cascade.
Reactome; R-HSA-2514859; Inactivation, recovery and regulation of the phototransduction cascade.
Reactome; R-HSA-4086398; Ca2+ pathway.
ChiTaRS; PDE6B; human.
GeneWiki; PDE6B; -.
GenomeRNAi; 5158; -.
PRO; PR:P35913; -.
Proteomes; UP000005640; Chromosome 4.
Bgee; ENSG00000133256; -.
CleanEx; HS_PDE6B; -.
ExpressionAtlas; P35913; baseline and differential.
Genevisible; P35913; HS.
GO; GO:0097381; C:photoreceptor disc membrane; TAS:Reactome.
GO; GO:0005886; C:plasma membrane; TAS:Reactome.
GO; GO:0047555; F:3',5'-cyclic-GMP phosphodiesterase activity; IMP:BHF-UCL.
GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW.
GO; GO:0046037; P:GMP metabolic process; IMP:BHF-UCL.
GO; GO:0007603; P:phototransduction, visible light; TAS:ProtInc.
GO; GO:0051480; P:regulation of cytosolic calcium ion concentration; IMP:BHF-UCL.
GO; GO:0022400; P:regulation of rhodopsin mediated signaling pathway; TAS:Reactome.
GO; GO:0060041; P:retina development in camera-type eye; IEA:Ensembl.
GO; GO:0016056; P:rhodopsin mediated signaling pathway; TAS:Reactome.
GO; GO:0007601; P:visual perception; TAS:ProtInc.
GO; GO:0007223; P:Wnt signaling pathway, calcium modulating pathway; TAS:Reactome.
CDD; cd00077; HDc; 1.
Gene3D; 1.10.1300.10; -; 1.
Gene3D; 3.30.450.40; -; 2.
InterPro; IPR003018; GAF.
InterPro; IPR029016; GAF_dom-like.
InterPro; IPR003607; HD/PDEase_dom.
InterPro; IPR023088; PDEase.
InterPro; IPR002073; PDEase_catalytic_dom.
InterPro; IPR036971; PDEase_catalytic_dom_sf.
InterPro; IPR023174; PDEase_CS.
Pfam; PF01590; GAF; 2.
Pfam; PF00233; PDEase_I; 1.
PRINTS; PR00387; PDIESTERASE1.
SMART; SM00065; GAF; 2.
SMART; SM00471; HDc; 1.
SUPFAM; SSF55781; SSF55781; 3.
PROSITE; PS00126; PDEASE_I; 1.
1: Evidence at protein level;
Alternative splicing; cGMP; Complete proteome;
Congenital stationary night blindness; Disease mutation; Hydrolase;
Lipoprotein; Membrane; Metal-binding; Polymorphism; Prenylation;
Reference proteome; Repeat; Retinitis pigmentosa;
Sensory transduction; Vision.
CHAIN 1 851 Rod cGMP-specific 3',5'-cyclic
phosphodiesterase subunit beta.
/FTId=PRO_0000023348.
PROPEP 852 854 Removed in mature form. {ECO:0000250}.
/FTId=PRO_0000023349.
DOMAIN 71 220 GAF 1.
DOMAIN 252 429 GAF 2.
ACT_SITE 557 557 Proton donor. {ECO:0000250}.
METAL 561 561 Divalent metal cation 1. {ECO:0000250}.
METAL 597 597 Divalent metal cation 1. {ECO:0000250}.
METAL 598 598 Divalent metal cation 1. {ECO:0000250}.
METAL 598 598 Divalent metal cation 2. {ECO:0000250}.
METAL 718 718 Divalent metal cation 1. {ECO:0000250}.
LIPID 851 851 S-geranylgeranyl cysteine. {ECO:0000250}.
VAR_SEQ 1 279 Missing (in isoform 3).
{ECO:0000303|PubMed:14702039}.
/FTId=VSP_044919.
VAR_SEQ 835 835 Missing (in isoform 2).
{ECO:0000303|PubMed:15489334,
ECO:0000303|Ref.5}.
/FTId=VSP_036884.
VARIANT 74 74 R -> C (in RP40; autosomal recessive;
dbSNP:rs144590560).
/FTId=VAR_009283.
VARIANT 100 100 R -> H (in RP40; dbSNP:rs555600300).
{ECO:0000269|PubMed:22334370}.
/FTId=VAR_068361.
VARIANT 166 166 E -> K (in dbSNP:rs115775983).
{ECO:0000269|PubMed:8698075}.
/FTId=VAR_009284.
VARIANT 212 212 Y -> H (in dbSNP:rs551545798).
{ECO:0000269|PubMed:8698075}.
/FTId=VAR_009285.
VARIANT 219 219 Y -> H (in RP40; autosomal recessive;
dbSNP:rs62295357).
/FTId=VAR_009286.
VARIANT 228 228 L -> H (in RP40; autosomal recessive and
autosomal dominant).
{ECO:0000269|PubMed:8698075}.
/FTId=VAR_009287.
VARIANT 228 228 L -> I (in dbSNP:rs201584824).
/FTId=VAR_009288.
VARIANT 258 258 H -> N (in CSNBAD2; dbSNP:rs121918582).
{ECO:0000269|PubMed:8075643}.
/FTId=VAR_009289.
VARIANT 320 320 V -> I (in dbSNP:rs10902758).
{ECO:0000269|PubMed:1322354,
ECO:0000269|PubMed:1338685,
ECO:0000269|PubMed:14702039,
ECO:0000269|PubMed:15489334,
ECO:0000269|PubMed:8768262,
ECO:0000269|Ref.5}.
/FTId=VAR_054868.
VARIANT 527 527 L -> P (in RP40; autosomal recessive;
dbSNP:rs760766981).
/FTId=VAR_009290.
VARIANT 535 535 I -> N (in RP40; autosomal recessive;
dbSNP:rs527236088).
{ECO:0000269|PubMed:9543643}.
/FTId=VAR_009291.
VARIANT 552 552 R -> Q (in RP40; autosomal recessive;
dbSNP:rs751859807).
{ECO:0000269|PubMed:8956055}.
/FTId=VAR_009292.
VARIANT 557 557 H -> Y (in RP40; autosomal dominant;
dbSNP:rs121918581).
{ECO:0000269|PubMed:8394174}.
/FTId=VAR_006050.
VARIANT 576 576 G -> D (in RP40; autosomal recessive).
{ECO:0000269|PubMed:8595886}.
/FTId=VAR_006051.
VARIANT 654 654 E -> D (in dbSNP:rs17849286).
{ECO:0000269|PubMed:15489334,
ECO:0000269|Ref.5}.
/FTId=VAR_054869.
VARIANT 699 699 L -> R (in RP40; autosomal recessive).
{ECO:0000269|PubMed:8557257}.
/FTId=VAR_006052.
VARIANT 776 776 D -> N (in RP40; dbSNP:rs141563823).
{ECO:0000269|PubMed:22334370}.
/FTId=VAR_068362.
VARIANT 854 854 L -> R (in RP40; autosomal recessive).
/FTId=VAR_009293.
CONFLICT 33 35 AAA -> GRG (in Ref. 1; CAA44569, 2;
CAA46932 and 3; AAB22690). {ECO:0000305}.
CONFLICT 315 315 K -> Q (in Ref. 1; CAA44569).
{ECO:0000305}.
CONFLICT 320 320 V -> L (in Ref. 1; CAA44569).
{ECO:0000305}.
CONFLICT 360 360 A -> R (in Ref. 1; CAA44569).
{ECO:0000305}.
CONFLICT 698 698 Y -> I (in Ref. 1; CAA44569).
{ECO:0000305}.
SEQUENCE 854 AA; 98336 MW; BB11A519BE88C9DF CRC64;
MSLSEEQARS FLDQNPDFAR QYFGKKLSPE NVAAACEDGC PPDCDSLRDL CQVEESTALL
ELVQDMQESI NMERVVFKVL RRLCTLLQAD RCSLFMYRQR NGVAELATRL FSVQPDSVLE
DCLVPPDSEI VFPLDIGVVG HVAQTKKMVN VEDVAECPHF SSFADELTDY KTKNMLATPI
MNGKDVVAVI MAVNKLNGPF FTSEDEDVFL KYLNFATLYL KIYHLSYLHN CETRRGQVLL
WSANKVFEEL TDIERQFHKA FYTVRAYLNC ERYSVGLLDM TKEKEFFDVW SVLMGESQPY
SGPRTPDGRE IVFYKVIDYV LHGKEEIKVI PTPSADHWAL ASGLPSYVAE SGFICNIMNA
SADEMFKFQE GALDDSGWLI KNVLSMPIVN KKEEIVGVAT FYNRKDGKPF DEQDEVLMES
LTQFLGWSVM NTDTYDKMNK LENRKDIAQD MVLYHVKCDR DEIQLILPTR ARLGKEPADC
DEDELGEILK EELPGPTTFD IYEFHFSDLE CTELDLVKCG IQMYYELGVV RKFQIPQEVL
VRFLFSISKG YRRITYHNWR HGFNVAQTMF TLLMTGKLKS YYTDLEAFAM VTAGLCHDID
HRGTNNLYQM KSQNPLAKLH GSSILERHHL EFGKFLLSEE TLNIYQNLNR RQHEHVIHLM
DIAIIATDLA LYFKKRAMFQ KIVDESKNYQ DKKSWVEYLS LETTRKEIVM AMMMTACDLS
AITKPWEVQS KVALLVAAEF WEQGDLERTV LDQQPIPMMD RNKAAELPKL QVGFIDFVCT
FVYKEFSRFH EEILPMFDRL QNNRKEWKAL ADEYEAKVKA LEEKEEEERV AAKKVGTEIC
NGGPAPKSST CCIL


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