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Protein

Protein crumbs homolog 1

Gene

CRB1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score:

Annotation score:5 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
-Experimental evidence at protein leveli <p>This indicates the type of evidence that supports the existence of the protein. Note that the ‘protein existence’ evidence does not give information on the accuracy or correctness of the sequence(s) displayed.<p><a href='/help/protein_existence' target='_top'>More...</a></p>

<p>This section provides any useful information about the protein, mostly biological knowledge.<p><a href='/help/function_section' target='_top'>More...</a></p>Functioni

Plays a role in photoreceptor morphogenesis in the retina. May maintain cell polarization and adhesion.

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:<p><a href='/help/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

GO - Biological processi

<p>UniProtKB Keywords constitute a <a href="http://www.uniprot.org/keywords">controlled vocabulary</a> with a hierarchical structure. Keywords summarise the content of a UniProtKB entry and facilitate the search for proteins of interest.<p><a href='/help/keywords' target='_top'>More...</a></p>Keywordsi

LigandCalcium

<p>This section provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.<p><a href='/help/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides an exhaustive list of all names of the protein, from commonly used to obsolete, to allow unambiguous identification of a protein.<p><a href='/help/protein_names' target='_top'>More...</a></p>Protein namesi
Recommended name:
Protein crumbs homolog 1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section indicates the name(s) of the gene(s) that code for the protein sequence(s) described in the entry. Four distinct tokens exist: ‘Name’, ‘Synonyms’, ‘Ordered locus names’ and ‘ORF names’.<p><a href='/help/gene_name' target='_top'>More...</a></p>Gene namesi
Name:CRB1
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section provides information on the name(s) of the organism that is the source of the protein sequence.<p><a href='/help/organism-name' target='_top'>More...</a></p>OrganismiHomo sapiens (Human)
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section shows the unique identifier assigned by the NCBI to the source organism of the protein. This is known as the ‘taxonomic identifier’ or ‘taxid’.<p><a href='/help/taxonomic_identifier' target='_top'>More...</a></p>Taxonomic identifieri9606 [NCBI]
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section contains the taxonomic hierarchical classification lineage of the source organism. It lists the nodes as they appear top-down in the taxonomic tree, with the more general grouping listed first.<p><a href='/help/taxonomic_lineage' target='_top'>More...</a></p>Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
<p>This subsection of the <a href="http://www.uniprot.org/help/names_and_taxonomy_section">Names and taxonomy</a> section is present for entries that are part of a <a href="http://www.uniprot.org/proteomes">proteome</a>, i.e. of a set of proteins thought to be expressed by organisms whose genomes have been completely sequenced.<p><a href='/help/proteomes_manual' target='_top'>More...</a></p>Proteomesi
  • UP000005640 <p>A UniProt <a href="http://www.uniprot.org/manual/proteomes_manual">proteome</a> can consist of several components. <br></br>The component name refers to the genomic component encoding a set of proteins.<p><a href='/help/proteome_component' target='_top'>More...</a></p> Componenti: Chromosome 1

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000134376.14

Human Gene Nomenclature Database

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HGNCi
HGNC:2343 CRB1

Online Mendelian Inheritance in Man (OMIM)

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MIMi
604210 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P82279

<p>This section provides information on the location and the topology of the mature protein in the cell.<p><a href='/help/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Topology

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the subcellular compartment where each non-membrane region of a membrane-spanning protein is found.<p><a href='/help/topo_dom' target='_top'>More...</a></p>Topological domaini26 – 1347ExtracellularSequence analysisAdd BLAST1322
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a membrane-spanning region of the protein. It denotes the presence of both alpha-helical transmembrane regions and the membrane spanning regions of beta-barrel transmembrane proteins.<p><a href='/help/transmem' target='_top'>More...</a></p>Transmembranei1348 – 1368HelicalSequence analysisAdd BLAST21
Topological domaini1369 – 1406CytoplasmicSequence analysisAdd BLAST38

Keywords - Cellular componenti

Cell membrane, Membrane, Secreted

<p>This section provides information on the disease(s) and phenotype(s) associated with a protein.<p><a href='/help/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

<p>This subsection of the ‘Pathology and Biotech’ section provides information on the disease(s) associated with genetic variations in a given protein. The information is extracted from the scientific literature and diseases that are also described in the <a href="http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim">OMIM</a> database are represented with a <a href="http://www.uniprot.org/diseases">controlled vocabulary</a> in the following way:<p><a href='/help/involvement_in_disease' target='_top'>More...</a></p>Involvement in diseasei

CRB1 mutations have been found in various retinal dystrophies, chronic and disabling disorders of visual function. They predominantly involve the posterior portion of the ocular fundus, due to degeneration in the sensory layer of the retina, retinal pigment epithelium, Bruch membrane, choroid, or a combination of these tissues. Onset of inherited retinal dystrophies is painless, bilateral and typically progressive. Most people experience gradual peripheral vision loss or tunnel vision, and difficulties with poor illumination and night vision. Central vision is usually unaffected, so the person may still be able to read. However, it can also deteriorate to cause total blindness. Examples of retinal dystrophies are retinitis pigmentosa, Leber congenital amaurosis, cone-rod dystrophy among others.3 Publications
Retinitis pigmentosa 12 (RP12)15 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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. RP12 is an autosomal recessive, severe form often manifesting in early childhood. Patients experiment progressive visual field loss with severe visual impairment before the age of twenty. Some patients have a preserved paraarteriolar retinal pigment epithelium (PPRPE) and hypermetropia.
See also OMIM:600105
Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p>Natural variantiVAR_06418027C → F in RP12. 1 Publication1
Natural variantiVAR_06712545C → W in RP12. 1 PublicationCorresponds to variant dbSNP:rs145141811EnsemblClinVar.1
Natural variantiVAR_067126157C → S in RP12. 1 Publication1
Natural variantiVAR_011641161A → V in RP12. 1 PublicationCorresponds to variant dbSNP:rs62635651EnsemblClinVar.1
Natural variantiVAR_067127165 – 167Missing in RP12. 3
Natural variantiVAR_022943195C → F in RP12. 1 PublicationCorresponds to variant dbSNP:rs764256655EnsemblClinVar.1
Natural variantiVAR_011642250C → W in RP12. 2 PublicationsCorresponds to variant dbSNP:rs62635652EnsemblClinVar.1
Natural variantiVAR_067130312N → K in RP12. 1 Publication1
Natural variantiVAR_022947433Y → C in RP12. 1 PublicationCorresponds to variant dbSNP:rs62636288EnsemblClinVar.1
Natural variantiVAR_068363534K → N in RP12. 1 Publication1
Natural variantiVAR_022950578V → E in RP12. 1 Publication1
Natural variantiVAR_022952587C → Y in RP12. 1 Publication1
Natural variantiVAR_067139675W → C in RP12. 1 Publication1
Natural variantiVAR_067140710E → V in RP12. 2 PublicationsCorresponds to variant dbSNP:rs145282040EnsemblClinVar.1
Natural variantiVAR_067141740S → F in RP12. 1 Publication1
Natural variantiVAR_022960836P → T in RP12. 4 PublicationsCorresponds to variant dbSNP:rs116471343EnsemblClinVar.1
Natural variantiVAR_022961837D → H in RP12; located on the same allele as T-1354. 1 PublicationCorresponds to variant dbSNP:rs62636289EnsemblClinVar.1
Natural variantiVAR_022962846G → R in RP12. 2 PublicationsCorresponds to variant dbSNP:rs539189291Ensembl.1
Natural variantiVAR_022965891C → G in RP12; without preservation of the paraarteriolar retinal pigment epithelium. 1 PublicationCorresponds to variant dbSNP:rs62635658EnsemblClinVar.1
Natural variantiVAR_022966894N → S in RP12. 1 PublicationCorresponds to variant dbSNP:rs62636290EnsemblClinVar.1
Natural variantiVAR_067145901V → I in RP12; unknown pathological significance. 1 Publication1
Natural variantiVAR_022968959G → S in RP12; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs557111131Ensembl.1
Natural variantiVAR_022969962Missing in RP12; without preservation of the paraarteriolar retinal pigment epithelium. 1 Publication1
Natural variantiVAR_022970986N → I in RP12. 1 Publication1
Natural variantiVAR_0671491012L → S in RP12. 1 Publication1
Natural variantiVAR_0671501025S → N in RP12. 1 Publication1
Natural variantiVAR_0116461041M → T in RP12. 1 PublicationCorresponds to variant dbSNP:rs62635656EnsemblClinVar.1
Natural variantiVAR_0116471071L → P in RP12. 2 PublicationsCorresponds to variant dbSNP:rs62635657EnsemblClinVar.1
Natural variantiVAR_0671511099T → K in RP12. 1 Publication1
Natural variantiVAR_0229731100I → T in RP12. 2 PublicationsCorresponds to variant dbSNP:rs62635659EnsemblClinVar.1
Natural variantiVAR_0641811165C → W in RP12. 1 Publication1
Natural variantiVAR_0116491181C → R in RP12. 1 PublicationCorresponds to variant dbSNP:rs62636291EnsemblClinVar.1
Natural variantiVAR_0671561305P → L in RP12. 1 Publication1
Natural variantiVAR_0229821354A → T in RP12; located on the same allele as H-837. 1 PublicationCorresponds to variant dbSNP:rs200469148Ensembl.1
Natural variantiVAR_0229831383R → H in RP12. 2 PublicationsCorresponds to variant dbSNP:rs200573274Ensembl.1
Leber congenital amaurosis 8 (LCA8)20 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus.
See also OMIM:613835
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_022941144F → V in LCA8. 1 PublicationCorresponds to variant dbSNP:rs62636262EnsemblClinVar.1
Natural variantiVAR_022944205I → T in LCA8; unknown pathological significance. 3 PublicationsCorresponds to variant dbSNP:rs62645749EnsemblClinVar.1
Natural variantiVAR_079622328 – 1406Missing in LCA8. 1 PublicationAdd BLAST1079
Natural variantiVAR_067131333G → D in LCA8. 1 PublicationCorresponds to variant dbSNP:rs587783015EnsemblClinVar.1
Natural variantiVAR_022946383C → Y in LCA8. 1 PublicationCorresponds to variant dbSNP:rs62645754EnsemblClinVar.1
Natural variantiVAR_067132438C → Y in LCA8. 1 Publication1
Natural variantiVAR_067133454G → R in LCA8. 1 PublicationCorresponds to variant dbSNP:rs954595597Ensembl.1
Natural variantiVAR_022948480C → G in LCA8. 1 Publication1
Natural variantiVAR_022949480C → R in LCA8. 2 PublicationsCorresponds to variant dbSNP:rs62636264EnsemblClinVar.1
Natural variantiVAR_067136535L → P in LCA8. 1 PublicationCorresponds to variant dbSNP:rs113082791Ensembl.1
Natural variantiVAR_067137564D → Y in LCA8. 1 Publication1
Natural variantiVAR_022951584D → Y in LCA8. 2 Publications1
Natural variantiVAR_067138635S → P in LCA8; unknown pathological significance. 1 Publication1
Natural variantiVAR_022954681C → Y in LCA8. 2 PublicationsCorresponds to variant dbSNP:rs62636266EnsemblClinVar.1
Natural variantiVAR_022955710E → Q in LCA8. 1 PublicationCorresponds to variant dbSNP:rs62645755EnsemblClinVar.1
Natural variantiVAR_022956741M → T in LCA8; also found in patients with early-onset rod-cone retinal dystrophy. 4 PublicationsCorresponds to variant dbSNP:rs62636267EnsemblClinVar.1
Natural variantiVAR_067142753L → P in LCA8. 2 PublicationsCorresponds to variant dbSNP:rs896160584Ensembl.1
Natural variantiVAR_022964852I → T in LCA8. 2 PublicationsCorresponds to variant dbSNP:rs62636271EnsemblClinVar.1
Natural variantiVAR_067146937A → T in LCA8; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs114630940EnsemblClinVar.1
Natural variantiVAR_067147939C → Y in LCA8. 1 Publication1
Natural variantiVAR_079626948C → R in LCA8. 1 Publication1
Natural variantiVAR_022971989I → T in LCA8. 1 Publication1
Natural variantiVAR_0671481003I → T in LCA8. 1 Publication1
Natural variantiVAR_0229721025S → I in LCA8. 1 PublicationCorresponds to variant dbSNP:rs62636274EnsemblClinVar.1
Natural variantiVAR_0116481100I → R in LCA8. 1 PublicationCorresponds to variant dbSNP:rs62635659EnsemblClinVar.1
Natural variantiVAR_0229751107L → P in LCA8. 2 PublicationsCorresponds to variant dbSNP:rs62636276EnsemblClinVar.1
Natural variantiVAR_0671521161Y → C in LCA8. 1 Publication1
Natural variantiVAR_0229771205G → R in LCA8. 1 PublicationCorresponds to variant dbSNP:rs574742644EnsemblClinVar.1
Natural variantiVAR_0229781218C → F in LCA8. 1 Publication1
Natural variantiVAR_0796281226 – 1406Missing in LCA8. 1 PublicationAdd BLAST181
Natural variantiVAR_0229791317N → H in LCA8. 1 PublicationCorresponds to variant dbSNP:rs62636281EnsemblClinVar.1
Natural variantiVAR_0229801321C → S in LCA8; also early onset RP without preservation of the paraarteriolar retinal pigment epithelium. 2 PublicationsCorresponds to variant dbSNP:rs62635649EnsemblClinVar.1
Natural variantiVAR_0671571332C → F in LCA8. 1 PublicationCorresponds to variant dbSNP:rs377543137Ensembl.1
Natural variantiVAR_0671591381P → L in LCA8. 1 Publication1
Pigmented paravenous chorioretinal atrophy (PPCRA)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionUnusual retinal degeneration characterized by accumulation of pigmentation along retinal veins. PPCRA is dominantly inherited, but exhibited variable expressivity. Males are more likely to exhibit a severe phenotype, whereas females may remain virtually asymptomatic even in later years. The PPCRA phenotype is associated with a mutation in CRB1 gene which is likely to affect the structure of the CRB1 protein.
See also OMIM:172870
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_022942162V → M in PPCRA. 1 PublicationCorresponds to variant dbSNP:rs137853138EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Leber congenital amaurosis, Retinitis pigmentosa

Organism-specific databases

DisGeNET

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DisGeNETi
23418

GeneReviews a resource of expert-authored, peer-reviewed disease descriptions.

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GeneReviewsi
CRB1

MalaCards human disease database

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MalaCardsi
CRB1
MIMi172870 phenotype
268000 phenotype
600105 phenotype
613835 phenotype

Open Targets

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OpenTargetsi
ENSG00000134376

Orphanet; a database dedicated to information on rare diseases and orphan drugs

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Orphaneti
65 Leber congenital amaurosis
251295 Pigmented paravenous retinochoroidal atrophy
791 Retinitis pigmentosa

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA26863

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
CRB1

Domain mapping of disease mutations (DMDM)

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DMDMi
71153499

<p>This section describes post-translational modifications (PTMs) and/or processing events.<p><a href='/help/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section denotes the presence of an N-terminal signal peptide.<p><a href='/help/signal' target='_top'>More...</a></p>Signal peptidei1 – 25Sequence analysisAdd BLAST25
<p>This subsection of the ‘PTM / Processing’ section describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_000000750026 – 1406Protein crumbs homolog 1Add BLAST1381

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM / Processing</a> section specifies the position and type of each covalently attached glycan group (mono-, di-, or polysaccharide).<p><a href='/help/carbohyd' target='_top'>More...</a></p>Glycosylationi30N-linked (GlcNAc...) asparagineSequence analysis1
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi34 ↔ 45By similarity
Disulfide bondi39 ↔ 54By similarity
Glycosylationi41N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi42N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi56 ↔ 67By similarity
Disulfide bondi74 ↔ 85By similarity
Disulfide bondi79 ↔ 96By similarity
Disulfide bondi98 ↔ 107By similarity
Disulfide bondi114 ↔ 125By similarity
Disulfide bondi119 ↔ 134By similarity
Disulfide bondi136 ↔ 145By similarity
Disulfide bondi152 ↔ 163By similarity
Disulfide bondi157 ↔ 172By similarity
Disulfide bondi174 ↔ 183By similarity
Disulfide bondi190 ↔ 201By similarity
Disulfide bondi195 ↔ 210By similarity
Disulfide bondi212 ↔ 221By similarity
Glycosylationi215N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi228 ↔ 239By similarity
Disulfide bondi233 ↔ 248By similarity
Disulfide bondi250 ↔ 259By similarity
Disulfide bondi266 ↔ 277By similarity
Disulfide bondi271 ↔ 286By similarity
Glycosylationi287N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi288 ↔ 298By similarity
Disulfide bondi305 ↔ 316By similarity
Disulfide bondi310 ↔ 325By similarity
Glycosylationi313N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi322N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi327 ↔ 336By similarity
Disulfide bondi343 ↔ 354By similarity
Disulfide bondi348 ↔ 383By similarity
Disulfide bondi385 ↔ 394By similarity
Disulfide bondi401 ↔ 412By similarity
Disulfide bondi406 ↔ 421By similarity
Glycosylationi418N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi423 ↔ 438By similarity
Glycosylationi427N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi445 ↔ 456By similarity
Disulfide bondi450 ↔ 469By similarity
Glycosylationi453N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi471 ↔ 480By similarity
Glycosylationi550N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi561N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi642 ↔ 670By similarity
Glycosylationi657N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi676 ↔ 687By similarity
Disulfide bondi681 ↔ 696By similarity
Disulfide bondi698 ↔ 707By similarity
Glycosylationi757N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi851 ↔ 885By similarity
Glycosylationi871N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi880N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi891 ↔ 902By similarity
Disulfide bondi896 ↔ 911By similarity
Disulfide bondi913 ↔ 922By similarity
Disulfide bondi928 ↔ 939By similarity
Disulfide bondi933 ↔ 948By similarity
Glycosylationi968N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi975N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1000N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi1096 ↔ 1137By similarity
Disulfide bondi1143 ↔ 1154By similarity
Disulfide bondi1148 ↔ 1163By similarity
Disulfide bondi1165 ↔ 1174By similarity
Disulfide bondi1181 ↔ 1191By similarity
Disulfide bondi1186 ↔ 1200By similarity
Glycosylationi1190N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi1202 ↔ 1211By similarity
Disulfide bondi1218 ↔ 1229By similarity
Disulfide bondi1223 ↔ 1238By similarity
Disulfide bondi1240 ↔ 1249By similarity
Glycosylationi1243N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi1259 ↔ 1274By similarity
Glycosylationi1265N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi1268 ↔ 1283By similarity
Glycosylationi1273N-linked (GlcNAc...) asparagineSequence analysis1
Disulfide bondi1285 ↔ 1294By similarity
Disulfide bondi1301 ↔ 1312By similarity
Disulfide bondi1306 ↔ 1321By similarity
Disulfide bondi1323 ↔ 1332By similarity

<p>This subsection of the <a href="http://www.uniprot.org/help/ptm_processing_section">PTM/processing</a> section describes post-translational modifications (PTMs). This subsection <strong>complements</strong> the information provided at the sequence level or describes modifications for which <strong>position-specific data is not yet available</strong>.<p><a href='/help/post-translational_modification' target='_top'>More...</a></p>Post-translational modificationi

Extensively glycosylated.

Keywords - PTMi

Disulfide bond, Glycoprotein

Proteomic databases

Encyclopedia of Proteome Dynamics

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EPDi
P82279

MaxQB - The MaxQuant DataBase

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MaxQBi
P82279

PaxDb, a database of protein abundance averages across all three domains of life

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PaxDbi
P82279

PeptideAtlas

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PeptideAtlasi
P82279

PRoteomics IDEntifications database

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PRIDEi
P82279

ProteomicsDB human proteome resource

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ProteomicsDBi
57705
57706 [P82279-2]
57707 [P82279-3]
57708 [P82279-4]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P82279

Comprehensive resource for the study of protein post-translational modifications (PTMs) in human, mouse and rat.

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PhosphoSitePlusi
P82279

<p>This section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.<p><a href='/help/expression_section' target='_top'>More...</a></p>Expressioni

<p>This subsection of the ‘Expression’ section provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms. By default, the information is derived from experiments at the mRNA level, unless specified ‘at protein level’. <br></br>Examples: <a href="http://www.uniprot.org/uniprot/P92958#expression">P92958</a>, <a href="http://www.uniprot.org/uniprot/Q8TDN4#expression">Q8TDN4</a>, <a href="http://www.uniprot.org/uniprot/O14734#expression">O14734</a><p><a href='/help/tissue_specificity' target='_top'>More...</a></p>Tissue specificityi

Preferential expression in retina, also expressed in brain, testis, fetal brain and fetal eye.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000134376 Expressed in 96 organ(s), highest expression level in endothelial cell

CleanEx database of gene expression profiles

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CleanExi
HS_CRB1

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P82279 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P82279 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA061250
HPA063127

<p>This section provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.<p><a href='/help/interaction_section' target='_top'>More...</a></p>Interactioni

<p>This subsection of the <a href="http://www.uniprot.org/help/interaction_section">'Interaction'</a> section provides information about the protein quaternary structure and interaction(s) with other proteins or protein complexes (with the exception of physiological receptor-ligand interactions which are annotated in the <a href="http://www.uniprot.org/help/function_section">'Function'</a> section).<p><a href='/help/subunit_structure' target='_top'>More...</a></p>Subunit structurei

Forms a complex with MPDZ (By similarity). Forms a complex with MPP4 and MPP5.By similarity

<p>This subsection of the '<a href="http://www.uniprot.org/help/interaction_section%27">Interaction</a> section provides information about binary protein-protein interactions. The data presented in this section are a quality-filtered subset of binary interactions automatically derived from the <a href="http://www.ebi.ac.uk/intact/">IntAct database</a>. It is updated on a monthly basis. Each binary interaction is displayed on a separate line.<p><a href='/help/binary_interactions' target='_top'>More...</a></p>Binary interactionsi

WithEntry#Exp.IntActNotes
PATJQ8NI352EBI-1048648,EBI-724390

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
116990, 3 interactors

CORUM comprehensive resource of mammalian protein complexes

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CORUMi
P82279

Protein interaction database and analysis system

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IntActi
P82279, 3 interactors

Molecular INTeraction database

More...
MINTi
P82279

STRING: functional protein association networks

More...
STRINGi
9606.ENSP00000356370

<p>This section provides information on the tertiary and secondary structure of a protein.<p><a href='/help/structure_section' target='_top'>More...</a></p>Structurei

Secondary structure

11406
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

More...
ProteinModelPortali
P82279

SWISS-MODEL Repository - a database of annotated 3D protein structure models

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SMRi
P82279

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

More...
MobiDBi
Search...

<p>This section provides information on sequence similarities with other proteins and the domain(s) present in a protein.<p><a href='/help/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/family_and_domains_section">Family and Domains</a> section describes the position and type of a domain, which is defined as a specific combination of secondary structures organized into a characteristic three-dimensional structure or fold.<p><a href='/help/domain' target='_top'>More...</a></p>Domaini30 – 68EGF-like 1PROSITE-ProRule annotationAdd BLAST39
Domaini70 – 108EGF-like 2PROSITE-ProRule annotationAdd BLAST39
Domaini110 – 146EGF-like 3PROSITE-ProRule annotationAdd BLAST37
Domaini148 – 184EGF-like 4; calcium-bindingPROSITE-ProRule annotationAdd BLAST37
Domaini186 – 222EGF-like 5; calcium-bindingPROSITE-ProRule annotationAdd BLAST37
Domaini224 – 260EGF-like 6; calcium-bindingPROSITE-ProRule annotationAdd BLAST37
Domaini262 – 299EGF-like 7; calcium-bindingPROSITE-ProRule annotationAdd BLAST38
Domaini301 – 337EGF-like 8PROSITE-ProRule annotationAdd BLAST37
Domaini339 – 395EGF-like 9PROSITE-ProRule annotationAdd BLAST57
Domaini397 – 439EGF-like 10; calcium-bindingPROSITE-ProRule annotationAdd BLAST43
Domaini441 – 481EGF-like 11PROSITE-ProRule annotationAdd BLAST41
Domaini485 – 670Laminin G-like 1PROSITE-ProRule annotationAdd BLAST186
Domaini672 – 708EGF-like 12PROSITE-ProRule annotationAdd BLAST37
Domaini714 – 885Laminin G-like 2PROSITE-ProRule annotationAdd BLAST172
Domaini887 – 923EGF-like 13PROSITE-ProRule annotationAdd BLAST37
Domaini924 – 960EGF-like 14PROSITE-ProRule annotationAdd BLAST37
Domaini950 – 1137Laminin G-like 3PROSITE-ProRule annotationAdd BLAST188
Domaini1139 – 1175EGF-like 15PROSITE-ProRule annotationAdd BLAST37
Domaini1177 – 1212EGF-like 16; calcium-bindingPROSITE-ProRule annotationAdd BLAST36
Domaini1214 – 1250EGF-like 17PROSITE-ProRule annotationAdd BLAST37
Domaini1255 – 1295EGF-like 18PROSITE-ProRule annotationAdd BLAST41
Domaini1297 – 1333EGF-like 19; calcium-bindingPROSITE-ProRule annotationAdd BLAST37

<p>This subsection of the ‘Family and domains’ section provides information about the sequence similarity with other proteins.<p><a href='/help/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Belongs to the Crumbs protein family.Curated

Keywords - Domaini

EGF-like domain, Repeat, Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

More...
eggNOGi
ENOG410IR70 Eukaryota
ENOG411193Y LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000155152

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG080001

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P82279

KEGG Orthology (KO)

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KOi
K16681

Identification of Orthologs from Complete Genome Data

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OMAi
SRVEMWS

Database of Orthologous Groups

More...
OrthoDBi
EOG091G00H8

Database for complete collections of gene phylogenies

More...
PhylomeDBi
P82279

TreeFam database of animal gene trees

More...
TreeFami
TF316224

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR013320 ConA-like_dom_sf
IPR001881 EGF-like_Ca-bd_dom
IPR013032 EGF-like_CS
IPR000742 EGF-like_dom
IPR000152 EGF-type_Asp/Asn_hydroxyl_site
IPR018097 EGF_Ca-bd_CS
IPR009030 Growth_fac_rcpt_cys_sf
IPR001791 Laminin_G

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00008 EGF, 13 hits
PF12661 hEGF, 3 hits
PF02210 Laminin_G_2, 3 hits

Simple Modular Architecture Research Tool; a protein domain database

More...
SMARTi
View protein in SMART
SM00181 EGF, 18 hits
SM00179 EGF_CA, 16 hits
SM00282 LamG, 3 hits

Superfamily database of structural and functional annotation

More...
SUPFAMi
SSF49899 SSF49899, 3 hits
SSF57184 SSF57184, 2 hits

PROSITE; a protein domain and family database

More...
PROSITEi
View protein in PROSITE
PS00010 ASX_HYDROXYL, 10 hits
PS00022 EGF_1, 15 hits
PS01186 EGF_2, 11 hits
PS50026 EGF_3, 19 hits
PS01187 EGF_CA, 7 hits
PS50025 LAM_G_DOMAIN, 3 hits

<p>This section displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including <a href="http://www.uniprot.org/help/sequence_length">length</a> and <a href="http://www.uniprot.org/help/sequences">molecular weight</a>.<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequences (5+)i

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is complete or not.<p><a href='/help/sequence_status' target='_top'>More...</a></p>Sequence statusi: Complete.

<p>This subsection of the <a href="http://www.uniprot.org/help/sequences_section">Sequence</a> section indicates if the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> displayed by default in the entry is in its mature form or if it represents the precursor.<p><a href='/help/sequence_processing' target='_top'>More...</a></p>Sequence processingi: The displayed sequence is further processed into a mature form.

This entry describes 5 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 5 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: P82279-1) [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
MALKNINYLL IFYLSFSLLI YIKNSFCNKN NTRCLSNSCQ NNSTCKDFSK
60 70 80 90 100
DNDCSCSDTA NNLDKDCDNM KDPCFSNPCQ GSATCVNTPG ERSFLCKCPP
110 120 130 140 150
GYSGTICETT IGSCGKNSCQ HGGICHQDPI YPVCICPAGY AGRFCEIDHD
160 170 180 190 200
ECASSPCQNG AVCQDGIDGY SCFCVPGYQG RHCDLEVDEC ASDPCKNEAT
210 220 230 240 250
CLNEIGRYTC ICPHNYSGVN CELEIDECWS QPCLNGATCQ DALGAYFCDC
260 270 280 290 300
APGFLGDHCE LNTDECASQP CLHGGLCVDG ENRYSCNCTG SGFTGTHCET
310 320 330 340 350
LMPLCWSKPC HNNATCEDSV DNYTCHCWPG YTGAQCEIDL NECNSNPCQS
360 370 380 390 400
NGECVELSSE KQYGRITGLP SSFSYHEASG YVCICQPGFT GIHCEEDVNE
410 420 430 440 450
CSSNPCQNGG TCENLPGNYT CHCPFDNLSR TFYGGRDCSD ILLGCTHQQC
460 470 480 490 500
LNNGTCIPHF QDGQHGFSCL CPSGYTGSLC EIATTLSFEG DGFLWVKSGS
510 520 530 540 550
VTTKGSVCNI ALRFQTVQPM ALLLFRSNRD VFVKLELLSG YIHLSIQVNN
560 570 580 590 600
QSKVLLFISH NTSDGEWHFV EVIFAEAVTL TLIDDSCKEK CIAKAPTPLE
610 620 630 640 650
SDQSICAFQN SFLGGLPVGM TSNGVALLNF YNMPSTPSFV GCLQDIKIDW
660 670 680 690 700
NHITLENISS GSSLNVKAGC VRKDWCESQP CQSRGRCINL WLSYQCDCHR
710 720 730 740 750
PYEGPNCLRE YVAGRFGQDD STGYVIFTLD ESYGDTISLS MFVRTLQPSG
760 770 780 790 800
LLLALENSTY QYIRVWLERG RLAMLTPNSP KLVVKFVLND GNVHLISLKI
810 820 830 840 850
KPYKIELYQS SQNLGFISAS TWKIEKGDVI YIGGLPDKQE TELNGGFFKG
860 870 880 890 900
CIQDVRLNNQ NLEFFPNPTN NASLNPVLVN VTQGCAGDNS CKSNPCHNGG
910 920 930 940 950
VCHSRWDDFS CSCPALTSGK ACEEVQWCGF SPCPHGAQCQ PVLQGFECIA
960 970 980 990 1000
NAVFNGQSGQ ILFRSNGNIT RELTNITFGF RTRDANVIIL HAEKEPEFLN
1010 1020 1030 1040 1050
ISIQDSRLFF QLQSGNSFYM LSLTSLQSVN DGTWHEVTLS MTDPLSQTSR
1060 1070 1080 1090 1100
WQMEVDNETP FVTSTIATGS LNFLKDNTDI YVGDRAIDNI KGLQGCLSTI
1110 1120 1130 1140 1150
EIGGIYLSYF ENVHGFINKP QEEQFLKIST NSVVTGCLQL NVCNSNPCLH
1160 1170 1180 1190 1200
GGNCEDIYSS YHCSCPLGWS GKHCELNIDE CFSNPCIHGN CSDRVAAYHC
1210 1220 1230 1240 1250
TCEPGYTGVN CEVDIDNCQS HQCANGATCI SHTNGYSCLC FGNFTGKFCR
1260 1270 1280 1290 1300
QSRLPSTVCG NEKTNLTCYN GGNCTEFQTE LKCMCRPGFT GEWCEKDIDE
1310 1320 1330 1340 1350
CASDPCVNGG LCQDLLNKFQ CLCDVAFAGE RCEVDLADDL ISDIFTTIGS
1360 1370 1380 1390 1400
VTVALLLILL LAIVASVVTS NKRATQGTYS PSRQEKEGSR VEMWNLMPPP

AMERLI
Length:1,406
Mass (Da):154,183
Last modified:July 19, 2005 - v2
<p>The checksum is a form of redundancy check that is calculated from the sequence. It is useful for tracking sequence updates.</p> <p>It should be noted that while, in theory, two different sequences could have the same checksum value, the likelihood that this would happen is extremely low.</p> <p>However UniProtKB may contain entries with identical sequences in case of multiple genes (paralogs).</p> <p>The checksum is computed as the sequence 64-bit Cyclic Redundancy Check value (CRC64) using the generator polynomial: x<sup>64</sup> + x<sup>4</sup> + x<sup>3</sup> + x + 1. The algorithm is described in the ISO 3309 standard. </p> <p class="publication">Press W.H., Flannery B.P., Teukolsky S.A. and Vetterling W.T.<br /> <strong>Cyclic redundancy and other checksums</strong><br /> <a href="http://www.nrbook.com/b/bookcpdf.php">Numerical recipes in C 2nd ed., pp896-902, Cambridge University Press (1993)</a>)</p> Checksum:iF2D04D20FAA6E37D
GO
Isoform 2 (identifier: P82279-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1336-1376: LADDLISDIF...VVTSNKRATQ → VSSLSFYVSL...VVEWGEQEDY
     1377-1406: Missing.

Show »
Length:1,376
Mass (Da):151,413
Checksum:iF380DF2AA046A2FE
GO
Isoform 3 (identifier: P82279-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     218-329: Missing.

Note: No experimental confirmation available.
Show »
Length:1,294
Mass (Da):142,088
Checksum:i469C464159974813
GO
Isoform 4 (identifier: P82279-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-351: Missing.
     352-390: GECVELSSEK...YVCICQPGFT → MIRNSLCQPS...GFHILMAMLI
     1294-1406: Missing.

Note: No experimental confirmation available.
Show »
Length:942
Mass (Da):104,250
Checksum:iA95CA11C40DAAF47
GO
Isoform 5 (identifier: P82279-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     710-1245: Missing.

Show »
Length:870
Mass (Da):95,046
Checksum:iEAC761848F0392AE
GO

<p>In eukaryotic reference proteomes, unreviewed entries that are likely to belong to the same gene are computationally mapped, based on gene identifiers from Ensembl, EnsemblGenomes and model organism databases.<p><a href='/help/gene_centric_isoform_mapping' target='_top'>More...</a></p>Computationally mapped potential isoform sequencesi

There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F5H0L2F5H0L2_HUMAN
Protein crumbs homolog 1
CRB1
1,382Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A075B6G4A0A075B6G4_HUMAN
Protein crumbs homolog 1
CRB1
674Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>
A0A0C4DG35A0A0C4DG35_HUMAN
Protein crumbs homolog 1
CRB1
42Annotation score:

Annotation score:1 out of 5

<p>The annotation score provides a heuristic measure of the annotation content of a UniProtKB entry or proteome. This score <strong>cannot</strong> be used as a measure of the accuracy of the annotation as we cannot define the ‘correct annotation’ for any given protein.<p><a href='/help/annotation_score' target='_top'>More...</a></p>

<p>This subsection of the ‘Sequence’ section reports difference(s) between the protein sequence shown in the UniProtKB entry and other available protein sequences derived from the same gene.<p><a href='/help/sequence_caution' target='_top'>More...</a></p>Sequence cautioni

The sequence CAE45845 differs from that shown. Reason: Erroneous termination at position 567. Translated as Trp.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06418027C → F in RP12. 1 Publication1
Natural variantiVAR_06712545C → W in RP12. 1 PublicationCorresponds to variant dbSNP:rs145141811EnsemblClinVar.1
Natural variantiVAR_022941144F → V in LCA8. 1 PublicationCorresponds to variant dbSNP:rs62636262EnsemblClinVar.1
Natural variantiVAR_067126157C → S in RP12. 1 Publication1
Natural variantiVAR_011641161A → V in RP12. 1 PublicationCorresponds to variant dbSNP:rs62635651EnsemblClinVar.1
Natural variantiVAR_022942162V → M in PPCRA. 1 PublicationCorresponds to variant dbSNP:rs137853138EnsemblClinVar.1
Natural variantiVAR_067127165 – 167Missing in RP12. 3
Natural variantiVAR_022943195C → F in RP12. 1 PublicationCorresponds to variant dbSNP:rs764256655EnsemblClinVar.1
Natural variantiVAR_022944205I → T in LCA8; unknown pathological significance. 3 PublicationsCorresponds to variant dbSNP:rs62645749EnsemblClinVar.1
Natural variantiVAR_067128222E → K1 PublicationCorresponds to variant dbSNP:rs114846212EnsemblClinVar.1
Natural variantiVAR_011642250C → W in RP12. 2 PublicationsCorresponds to variant dbSNP:rs62635652EnsemblClinVar.1
Natural variantiVAR_022945289T → M Rare variant found in patients with retinal dystrophy; does not segregate with the disease in a family; unlikely to be pathogenic. 5 PublicationsCorresponds to variant dbSNP:rs62636263EnsemblClinVar.1
Natural variantiVAR_067129310C → Y Probable disease-associated mutation found in patients with early-onset retinal dystrophy. 1 PublicationCorresponds to variant dbSNP:rs779835125Ensembl.1
Natural variantiVAR_067130312N → K in RP12. 1 Publication1
Natural variantiVAR_079622328 – 1406Missing in LCA8. 1 PublicationAdd BLAST1079
Natural variantiVAR_067131333G → D in LCA8. 1 PublicationCorresponds to variant dbSNP:rs587783015EnsemblClinVar.1
Natural variantiVAR_022946383C → Y in LCA8. 1 PublicationCorresponds to variant dbSNP:rs62645754EnsemblClinVar.1
Natural variantiVAR_022947433Y → C in RP12. 1 PublicationCorresponds to variant dbSNP:rs62636288EnsemblClinVar.1
Natural variantiVAR_067132438C → Y in LCA8. 1 Publication1
Natural variantiVAR_067133454G → R in LCA8. 1 PublicationCorresponds to variant dbSNP:rs954595597Ensembl.1
Natural variantiVAR_079623479L → P Probable disease-associated mutation found in patients with rod-cone retinal dystrophy. 1 PublicationCorresponds to variant dbSNP:rs963201816Ensembl.1
Natural variantiVAR_022948480C → G in LCA8. 1 Publication1
Natural variantiVAR_022949480C → R in LCA8. 2 PublicationsCorresponds to variant dbSNP:rs62636264EnsemblClinVar.1
Natural variantiVAR_067134488F → S1 PublicationCorresponds to variant dbSNP:rs777377174Ensembl.1
Natural variantiVAR_067135491D → V Found in a patient with early-onset retinal dystrophy; unknown pathological significance. 1 Publication1
Natural variantiVAR_068363534K → N in RP12. 1 Publication1
Natural variantiVAR_067136535L → P in LCA8. 1 PublicationCorresponds to variant dbSNP:rs113082791Ensembl.1
Natural variantiVAR_067137564D → Y in LCA8. 1 Publication1
Natural variantiVAR_022950578V → E in RP12. 1 Publication1
Natural variantiVAR_022951584D → Y in LCA8. 2 Publications1
Natural variantiVAR_022952587C → Y in RP12. 1 Publication1
Natural variantiVAR_067138635S → P in LCA8; unknown pathological significance. 1 Publication1
Natural variantiVAR_067139675W → C in RP12. 1 Publication1
Natural variantiVAR_022953679Q → E1 PublicationCorresponds to variant dbSNP:rs62636286EnsemblClinVar.1
Natural variantiVAR_022954681C → Y in LCA8. 2 PublicationsCorresponds to variant dbSNP:rs62636266EnsemblClinVar.1
Natural variantiVAR_022955710E → Q in LCA8. 1 PublicationCorresponds to variant dbSNP:rs62645755EnsemblClinVar.1
Natural variantiVAR_067140710E → V in RP12. 2 PublicationsCorresponds to variant dbSNP:rs145282040EnsemblClinVar.1
Natural variantiVAR_067141740S → F in RP12. 1 Publication1
Natural variantiVAR_022956741M → T in LCA8; also found in patients with early-onset rod-cone retinal dystrophy. 4 PublicationsCorresponds to variant dbSNP:rs62636267EnsemblClinVar.1
Natural variantiVAR_011643745T → M in RP12 and LCA8. 8 PublicationsCorresponds to variant dbSNP:rs28939720EnsemblClinVar.1
Natural variantiVAR_022957749Missing in RP12 and LCA8. 2 Publications1
Natural variantiVAR_067142753L → P in LCA8. 2 PublicationsCorresponds to variant dbSNP:rs896160584Ensembl.1
Natural variantiVAR_011644764R → C in RP12 and LCA8. 10 PublicationsCorresponds to variant dbSNP:rs62635654EnsemblClinVar.1
Natural variantiVAR_079624764R → H Found in a patient with early-onset retinal dystrophy; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs375040930EnsemblClinVar.1
Natural variantiVAR_022958769R → H3 PublicationsCorresponds to variant dbSNP:rs62636287EnsemblClinVar.1
Natural variantiVAR_022959769R → Q1 Publication1
Natural variantiVAR_067143789Missing in early-onset retinal dystrophy; probable disease-associated mutation. 1 Publication1
Natural variantiVAR_067144821T → M1 PublicationCorresponds to variant dbSNP:rs142857810EnsemblClinVar.1
Natural variantiVAR_022960836P → T in RP12. 4 PublicationsCorresponds to variant dbSNP:rs116471343EnsemblClinVar.1
Natural variantiVAR_022961837D → H in RP12; located on the same allele as T-1354. 1 PublicationCorresponds to variant dbSNP:rs62636289EnsemblClinVar.1
Natural variantiVAR_022962846G → R in RP12. 2 PublicationsCorresponds to variant dbSNP:rs539189291Ensembl.1
Natural variantiVAR_022963850G → S in RP12 and LCA8. 3 PublicationsCorresponds to variant dbSNP:rs776591659EnsemblClinVar.1
Natural variantiVAR_022964852I → T in LCA8. 2 PublicationsCorresponds to variant dbSNP:rs62636271EnsemblClinVar.1
Natural variantiVAR_022965891C → G in RP12; without preservation of the paraarteriolar retinal pigment epithelium. 1 PublicationCorresponds to variant dbSNP:rs62635658EnsemblClinVar.1
Natural variantiVAR_022966894N → S in RP12. 1 PublicationCorresponds to variant dbSNP:rs62636290EnsemblClinVar.1
Natural variantiVAR_067145901V → I in RP12; unknown pathological significance. 1 Publication1
Natural variantiVAR_022967905R → Q1 PublicationCorresponds to variant dbSNP:rs114052315EnsemblClinVar.1
Natural variantiVAR_079625921A → P Probable disease-associated mutation found in patients with rod-cone retinal dystrophy. 1 Publication1
Natural variantiVAR_067146937A → T in LCA8; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs114630940EnsemblClinVar.1
Natural variantiVAR_067147939C → Y in LCA8. 1 Publication1
Natural variantiVAR_079626948C → R in LCA8. 1 Publication1
Natural variantiVAR_011645948C → Y in RP12 and LCA8; without preservation of the paraarteriolar retinal pigment epithelium. 15 PublicationsCorresponds to variant dbSNP:rs62645748EnsemblClinVar.1
Natural variantiVAR_022968959G → S in RP12; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs557111131Ensembl.1
Natural variantiVAR_022969962Missing in RP12; without preservation of the paraarteriolar retinal pigment epithelium. 1 Publication1
Natural variantiVAR_022970986N → I in RP12. 1 Publication1
Natural variantiVAR_022971989I → T in LCA8. 1 Publication1
Natural variantiVAR_0671481003I → T in LCA8. 1 Publication1
Natural variantiVAR_0671491012L → S in RP12. 1 Publication1
Natural variantiVAR_0229721025S → I in LCA8. 1 PublicationCorresponds to variant dbSNP:rs62636274EnsemblClinVar.1
Natural variantiVAR_0671501025S → N in RP12. 1 Publication1
Natural variantiVAR_0796271031D → N Probable disease-associated mutation found in patients with rod-cone retinal dystrophy. 1 Publication1
Natural variantiVAR_0116461041M → T in RP12. 1 PublicationCorresponds to variant dbSNP:rs62635656EnsemblClinVar.1
Natural variantiVAR_0116471071L → P in RP12. 2 PublicationsCorresponds to variant dbSNP:rs62635657EnsemblClinVar.1
Natural variantiVAR_0671511099T → K in RP12. 1 Publication1
Natural variantiVAR_0116481100I → R in LCA8. 1 PublicationCorresponds to variant dbSNP:rs62635659EnsemblClinVar.1
Natural variantiVAR_0229731100I → T in RP12. 2 PublicationsCorresponds to variant dbSNP:rs62635659EnsemblClinVar.1
Natural variantiVAR_0229741103G → R in LCA8 and RP12. 5 PublicationsCorresponds to variant dbSNP:rs62636275EnsemblClinVar.1
Natural variantiVAR_0229751107L → P in LCA8. 2 PublicationsCorresponds to variant dbSNP:rs62636276EnsemblClinVar.1
Natural variantiVAR_0229761107L → R in LCA8 and RP12. 2 PublicationsCorresponds to variant dbSNP:rs62636276EnsemblClinVar.1
Natural variantiVAR_0671521161Y → C in LCA8. 1 Publication1
Natural variantiVAR_0641811165C → W in RP12. 1 Publication1
Natural variantiVAR_0671531174C → G in LCA8 and RP12. 1 PublicationCorresponds to variant dbSNP:rs917768074Ensembl.1
Natural variantiVAR_0116491181C → R in RP12. 1 PublicationCorresponds to variant dbSNP:rs62636291EnsemblClinVar.1
Natural variantiVAR_0671541198Y → C Probable disease-associated mutation found in patients with early-onset retinal dystrophy. 1 Publication