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Protein

Tyrosinase

Gene

TYR

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

This is a copper-containing oxidase that functions in the formation of pigments such as melanins and other polyphenolic compounds. Catalyzes the initial and rate limiting step in the cascade of reactions leading to melanin production from tyrosine. In addition to hydroxylating tyrosine to DOPA (3,4-dihydroxyphenylalanine), also catalyzes the oxidation of DOPA to DOPA-quinone, and possibly the oxidation of DHI (5,6-dihydroxyindole) to indole-5,6 quinone.By similarity

<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> section describes the catalytic activity of an enzyme, i.e. a chemical reaction that the enzyme catalyzes.<p><a href='/help/catalytic_activity' target='_top'>More...</a></p>Catalytic activityi

<p>This subsection of the ‘Function’ section provides information relevant to cofactors. A cofactor is any non-protein substance required for a protein to be catalytically active. Some cofactors are inorganic, such as the metal atoms zinc, iron, and copper in various oxidation states. Others, such as most vitamins, are organic.<p><a href='/help/cofactor' target='_top'>More...</a></p>Cofactori

Cu2+By similarityNote: Binds 2 copper ions per subunit.By similarity

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section indicates at which position the protein binds a given metal ion. The nature of the metal is indicated in the ‘Description’ field.<p><a href='/help/metal' target='_top'>More...</a></p>Metal bindingi180Copper ABy similarity1
Metal bindingi202Copper ABy similarity1
Metal bindingi211Copper ABy similarity1
Metal bindingi363Copper BBy similarity1
Metal bindingi367Copper BBy similarity1
Metal bindingi390Copper BBy similarity1

<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

  • copper ion binding Source: UniProtKB
  • monooxygenase activity Source: Reactome
  • monophenol monooxygenase activity Source: UniProtKB
  • protein heterodimerization activity Source: UniProtKB
  • protein homodimerization activity Source: UniProtKB

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

Molecular functionMonooxygenase, Oxidoreductase, Tumor antigen
Biological processMelanin biosynthesis
LigandCopper, Metal-binding

Enzyme and pathway databases

BioCyc Collection of Pathway/Genome Databases

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BioCyci
MetaCyc:HS01248-MONOMER

BRENDA Comprehensive Enzyme Information System

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BRENDAi
1.14.18.1 2681

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-5662702 Melanin biosynthesis

SABIO-RK: Biochemical Reaction Kinetics Database

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SABIO-RKi
P14679

SIGNOR Signaling Network Open Resource

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SIGNORi
P14679

<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:
Tyrosinase (EC:1.14.18.1)
Alternative name(s):
LB24-AB
Monophenol monooxygenase
SK29-AB
Tumor rejection antigen AB
<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:TYR
<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 11

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000077498.8

Human Gene Nomenclature Database

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HGNCi
HGNC:12442 TYR

Online Mendelian Inheritance in Man (OMIM)

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MIMi
606933 gene

neXtProt; the human protein knowledge platform

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neXtProti
NX_P14679

<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 domaini19 – 476Lumenal, melanosomeSequence analysisAdd BLAST458
<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>Transmembranei477 – 497HelicalSequence analysisAdd BLAST21
Topological domaini498 – 529CytoplasmicSequence analysisAdd BLAST32

Keywords - Cellular componenti

Membrane

<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

Albinism, oculocutaneous, 1A (OCA1A)20 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder in which the biosynthesis of melanin pigment is absent in skin, hair, and eyes. It is characterized by complete lack of tyrosinase activity due to production of an inactive enzyme. Patients present with a life-long absence of melanin pigment after birth, and manifest increased sensitivity to ultraviolet radiation with predisposition to skin cancer. Visual anomalies include decreased acuity, nystagmus, strabismus and photophobia.
See also OMIM:203100
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_00764919H → Q in OCA1A. Corresponds to variant dbSNP:rs61753177EnsemblClinVar.1
Natural variantiVAR_00765021P → S in OCA1A. 1 PublicationCorresponds to variant dbSNP:rs61753178EnsemblClinVar.1
Natural variantiVAR_02168336C → Y in OCA1A. 1 PublicationCorresponds to variant dbSNP:rs61753179EnsemblClinVar.1
Natural variantiVAR_00765142D → G in OCA1A. 1 PublicationCorresponds to variant dbSNP:rs28940878EnsemblClinVar.1
Natural variantiVAR_02168444S → G in OCA1A. 1 Publication1
Natural variantiVAR_02168544S → R in OCA1A. 1 PublicationCorresponds to variant dbSNP:rs755700581Ensembl.1
Natural variantiVAR_00765247G → D in OCA1A. 3 PublicationsCorresponds to variant dbSNP:rs61753180EnsemblClinVar.1
Natural variantiVAR_02168647G → V in OCA1A. 1 Publication1
Natural variantiVAR_07259250S → L in OCA1A. 1 PublicationCorresponds to variant dbSNP:rs61753181Ensembl.1
Natural variantiVAR_00765455C → Y in OCA1A. 2 PublicationsCorresponds to variant dbSNP:rs28940879EnsemblClinVar.1
Natural variantiVAR_02168768Q → H in OCA1A. 1 Publication1
Natural variantiVAR_00765577R → Q in OCA1A. 3 PublicationsCorresponds to variant dbSNP:rs61753185EnsemblClinVar.1
Natural variantiVAR_00923677R → RR in OCA1A. 1 Publication1
Natural variantiVAR_00765677R → W in OCA1A. 2 PublicationsCorresponds to variant dbSNP:rs61753184EnsemblClinVar.1
Natural variantiVAR_02168879S → L in OCA1A. 1 PublicationCorresponds to variant dbSNP:rs544053015Ensembl.1
Natural variantiVAR_00765780W → R in OCA1A. Corresponds to variant dbSNP:rs61753188EnsemblClinVar.1
Natural variantiVAR_00765881P → L in OCA1A. 3 PublicationsCorresponds to variant dbSNP:rs28940876EnsemblClinVar.1
Natural variantiVAR_00765989C → R in OCA1A. 1 PublicationCorresponds to variant dbSNP:rs28940877EnsemblClinVar.1
Natural variantiVAR_07259391C → Y in OCA1A. 1 PublicationCorresponds to variant dbSNP:rs137854890EnsemblClinVar.1
Natural variantiVAR_00766097G → R in OCA1A. 1 PublicationCorresponds to variant dbSNP:rs61753252EnsemblClinVar.1
Natural variantiVAR_021689109G → R in OCA1A. 1 PublicationCorresponds to variant dbSNP:rs61753253EnsemblClinVar.1
Natural variantiVAR_021690155T → S in OCA1A. 1 Publication1
Natural variantiVAR_007661176F → I in OCA1A. 1 PublicationCorresponds to variant dbSNP:rs61753259EnsemblClinVar.1
Natural variantiVAR_021691177V → F in OCA1A. 1 PublicationCorresponds to variant dbSNP:rs138487695Ensembl.1
Natural variantiVAR_021692179M → L in OCA1A. 1 Publication1
Natural variantiVAR_021693180H → N in OCA1A. 1 PublicationCorresponds to variant dbSNP:rs779878377Ensembl.1
Natural variantiVAR_071756198I → T in OCA1A. 1 PublicationCorresponds to variant dbSNP:rs750553908Ensembl.1
Natural variantiVAR_021694199D → N in OCA1A. 1 PublicationCorresponds to variant dbSNP:rs1338186937Ensembl.1
Natural variantiVAR_021695201A → S in OCA1A. 1 Publication1
Natural variantiVAR_021696205P → T in OCA1A. 1 PublicationCorresponds to variant dbSNP:rs61754362EnsemblClinVar.1
Natural variantiVAR_007663206A → T in OCA1A. 1 PublicationCorresponds to variant dbSNP:rs28940880EnsemblClinVar.1
Natural variantiVAR_007664216L → M in OCA1A. Corresponds to variant dbSNP:rs61754363EnsemblClinVar.1
Natural variantiVAR_007665217R → G in OCA1A. Corresponds to variant dbSNP:rs63159160EnsemblClinVar.1
Natural variantiVAR_007667217R → Q in OCA1A. 2 PublicationsCorresponds to variant dbSNP:rs61754365EnsemblClinVar.1
Natural variantiVAR_021697217R → S in OCA1A. 1 Publication1
Natural variantiVAR_007666217R → W in OCA1A. 2 PublicationsCorresponds to variant dbSNP:rs63159160EnsemblClinVar.1
Natural variantiVAR_007926217Missing in OCA1A. 1
Natural variantiVAR_021698227Missing in OCA1A. 1
Natural variantiVAR_021699236W → L in OCA1A. 1 Publication1
Natural variantiVAR_021700236W → S in OCA1A. 1 PublicationCorresponds to variant dbSNP:rs61754367EnsemblClinVar.1
Natural variantiVAR_021701239R → W in OCA1A. 1 PublicationCorresponds to variant dbSNP:rs774670098Ensembl.1
Natural variantiVAR_021702240D → V in OCA1A. 1 Publication1
Natural variantiVAR_021703243K → T in OCA1A. 1 Publication1
Natural variantiVAR_007668253G → R in OCA1A. Corresponds to variant dbSNP:rs61754369EnsemblClinVar.1
Natural variantiVAR_021704256H → Y in OCA1A. 2 PublicationsCorresponds to variant dbSNP:rs61754370EnsemblClinVar.1
Natural variantiVAR_021705272W → C in OCA1A. 1 PublicationCorresponds to variant dbSNP:rs62645902EnsemblClinVar.1
Natural variantiVAR_007669275V → F in OCA1B and OCA1A. 3 PublicationsCorresponds to variant dbSNP:rs104894314EnsemblClinVar.1
Natural variantiVAR_007927288L → S in OCA1A. Corresponds to variant dbSNP:rs1463109821Ensembl.1
Natural variantiVAR_009237289C → G in OCA1A. 1 Publication1
Natural variantiVAR_007670289C → R in OCA1A. 2 PublicationsCorresponds to variant dbSNP:rs1468041471Ensembl.1
Natural variantiVAR_021706294E → G in OCA1A. 1 Publication1
Natural variantiVAR_007928294E → K in OCA1A and OCA1B. 3 PublicationsCorresponds to variant dbSNP:rs757754120EnsemblClinVar.1
Natural variantiVAR_072594298R → W in OCA1A. 1 PublicationCorresponds to variant dbSNP:rs200854796Ensembl.1
Natural variantiVAR_007671299R → H in OCA1A. 3 PublicationsCorresponds to variant dbSNP:rs61754375EnsemblClinVar.1
Natural variantiVAR_007672299R → S in OCA1A. 1 PublicationCorresponds to variant dbSNP:rs61754374EnsemblClinVar.1
Natural variantiVAR_021707318V → E in OCA1A. 1 Publication1
Natural variantiVAR_007929328E → Q in OCA1A. 1 PublicationCorresponds to variant dbSNP:rs61754380EnsemblClinVar.1
Natural variantiVAR_021708329S → P in OCA1A. 1 Publication1
Natural variantiVAR_021709332M → T in OCA1A. 1 PublicationCorresponds to variant dbSNP:rs372534292Ensembl.1
Natural variantiVAR_007676339S → G in OCA1A. 1 PublicationCorresponds to variant dbSNP:rs62645906EnsemblClinVar.1
Natural variantiVAR_021710345E → G in OCA1A. 1 Publication1
Natural variantiVAR_007930346G → E in OCA1A. Corresponds to variant dbSNP:rs773970123Ensembl.1
Natural variantiVAR_007931355A → E in OCA1A. 1
Natural variantiVAR_007678355A → P in OCA1A. 3 PublicationsCorresponds to variant dbSNP:rs62645908EnsemblClinVar.1
Natural variantiVAR_072595355A → V in OCA1A. 1 PublicationCorresponds to variant dbSNP:rs151206295EnsemblClinVar.1
Natural variantiVAR_007932361S → R in OCA1A. 1 PublicationCorresponds to variant dbSNP:rs61754383EnsemblClinVar.1
Natural variantiVAR_072596364N → H in OCA1A. 1 Publication1
Natural variantiVAR_007933367H → Y in OCA1A. 1 PublicationCorresponds to variant dbSNP:rs776054795Ensembl.1
Natural variantiVAR_007934370M → T in OCA1A. 1 PublicationCorresponds to variant dbSNP:rs61754385EnsemblClinVar.1
Natural variantiVAR_007679371N → T in OCA1A. Corresponds to variant dbSNP:rs61754387EnsemblClinVar.1
Natural variantiVAR_007935371N → Y in OCA1A. 2 PublicationsCorresponds to variant dbSNP:rs61754386EnsemblClinVar.1
Natural variantiVAR_007680373T → K in OCA1A. 7 PublicationsCorresponds to variant dbSNP:rs61754388EnsemblClinVar.1
Natural variantiVAR_021711378Q → K in OCA1A. 1 Publication1
Natural variantiVAR_007682382N → K in OCA1A. Corresponds to variant dbSNP:rs104894315EnsemblClinVar.1
Natural variantiVAR_007683383D → N in OCA1A. 3 PublicationsCorresponds to variant dbSNP:rs121908011EnsemblClinVar.1
Natural variantiVAR_072597384P → A in OCA1A. 1 Publication1
Natural variantiVAR_007936393V → F in OCA1A. 1 Publication1
Natural variantiVAR_007685395S → N in OCA1A. Corresponds to variant dbSNP:rs752344007Ensembl.1
Natural variantiVAR_021712395S → R in OCA1A. 1 Publication1
Natural variantiVAR_021713398E → A in OCA1A. 1 Publication1
Natural variantiVAR_021714398E → V in OCA1A. 1 Publication1
Natural variantiVAR_009238400W → L in OCA1A. 1 PublicationCorresponds to variant dbSNP:rs62645916EnsemblClinVar.1
Natural variantiVAR_021715402R → L in OCA1A. 1 Publication1
Natural variantiVAR_007687403R → S in OCA1A and OCA1B. 3 PublicationsCorresponds to variant dbSNP:rs104894316EnsemblClinVar.1
Natural variantiVAR_021716404H → N in OCA1A. 1 Publication1
Natural variantiVAR_021717405R → L in OCA1A. 1 Publication1
Natural variantiVAR_007689406P → L in OCA1A and OCA1B. 3 PublicationsCorresponds to variant dbSNP:rs104894313EnsemblClinVar.1
Natural variantiVAR_021718408Q → H in OCA1A. 1 Publication1
Natural variantiVAR_021719409E → D in OCA1A. 1 Publication1
Natural variantiVAR_021720416A → S in OCA1A. 1 Publication1
Natural variantiVAR_021721417P → H in OCA1A. 1 Publication1
Natural variantiVAR_007690419G → R in OCA1A. 4 PublicationsCorresponds to variant dbSNP:rs61754392EnsemblClinVar.1
Natural variantiVAR_007691422R → Q in OCA1A and OCA1B; temperature sensitive variant. 3 PublicationsCorresponds to variant dbSNP:rs61754393EnsemblClinVar.1
Natural variantiVAR_021722424S → F in OCA1A. 1 PublicationCorresponds to variant dbSNP:rs758747581Ensembl.1
Natural variantiVAR_021723426M → K in OCA1A. 1 PublicationCorresponds to variant dbSNP:rs1362285246Ensembl.1
Natural variantiVAR_021724427V → G in OCA1A. 1 Publication1
Natural variantiVAR_007938431P → L in OCA1A. 1 PublicationCorresponds to variant dbSNP:rs281865325EnsemblClinVar.1
Natural variantiVAR_021725434R → I in OCA1A. 1 Publication1
Natural variantiVAR_021726435N → D in OCA1A. 1 Publication1
Natural variantiVAR_021727439F → V in OCA1A. 1 PublicationCorresponds to variant dbSNP:rs281865327EnsemblClinVar.1
Natural variantiVAR_021728444D → G in OCA1A. 1 Publication1
Natural variantiVAR_007692446G → S in OCA1A. 3 PublicationsCorresponds to variant dbSNP:rs104894317EnsemblClinVar.1
Natural variantiVAR_007693448D → N in OCA1A. 3 PublicationsCorresponds to variant dbSNP:rs104894318EnsemblClinVar.1
Natural variantiVAR_072598490A → D in OCA1A. 1 PublicationCorresponds to variant dbSNP:rs1050708792Ensembl.1
Albinism, oculocutaneous, 1B (OCA1B)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder in which the biosynthesis of melanin pigment is reduced in skin, hair, and eyes. It is characterized by partial lack of tyrosinase activity. Patients have white hair at birth that rapidly turns yellow or blond. They manifest the development of minimal-to-moderate amounts of cutaneous and ocular pigment. Some patients may have with white hair in the warmer areas (scalp and axilla) and progressively darker hair in the cooler areas (extremities). This variant phenotype is due to a loss of tyrosinase activity above 35-37 degrees C.
See also OMIM:606952
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_007925152P → S in OCA1B. 1 PublicationCorresponds to variant dbSNP:rs145513733Ensembl.1
Natural variantiVAR_007669275V → F in OCA1B and OCA1A. 3 PublicationsCorresponds to variant dbSNP:rs104894314EnsemblClinVar.1
Natural variantiVAR_007928294E → K in OCA1A and OCA1B. 3 PublicationsCorresponds to variant dbSNP:rs757754120EnsemblClinVar.1
Natural variantiVAR_007675325T → A in OCA1B. Corresponds to variant dbSNP:rs61754379EnsemblClinVar.1
Natural variantiVAR_007681380S → P in OCA1B. Corresponds to variant dbSNP:rs61754391EnsemblClinVar.1
Natural variantiVAR_007684390H → D in OCA1B. Corresponds to variant dbSNP:rs62645914EnsemblClinVar.1
Natural variantiVAR_007937402R → G in OCA1B. 1
Natural variantiVAR_007687403R → S in OCA1A and OCA1B. 3 PublicationsCorresponds to variant dbSNP:rs104894316EnsemblClinVar.1
Natural variantiVAR_007689406P → L in OCA1A and OCA1B. 3 PublicationsCorresponds to variant dbSNP:rs104894313EnsemblClinVar.1
Natural variantiVAR_007691422R → Q in OCA1A and OCA1B; temperature sensitive variant. 3 PublicationsCorresponds to variant dbSNP:rs61754393EnsemblClinVar.1

Keywords - Diseasei

Albinism, Deafness, Disease mutation, Waardenburg syndrome

Organism-specific databases

DisGeNET

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DisGeNETi
7299

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

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GeneReviewsi
TYR

MalaCards human disease database

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MalaCardsi
TYR
MIMi103470 phenotype
203100 phenotype
601800 phenotype
606952 phenotype

Open Targets

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OpenTargetsi
ENSG00000077498

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

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Orphaneti
352734 Minimal pigment oculocutaneous albinism type 1
352740 Ocular albinism with congenital sensorineural deafness
79431 Oculocutaneous albinism type 1A
79434 Oculocutaneous albinism type 1B
352737 Temperature-sensitive oculocutaneous albinism type 1

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA37095

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

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ChEMBLi
CHEMBL1973

Drug and drug target database

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DrugBanki
DB00548 Azelaic Acid
DB09526 Hydroquinone
DB01055 Mimosine
DB00600 Monobenzone
DB00157 NADH

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
TYR

Domain mapping of disease mutations (DMDM)

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DMDMi
401235

<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 – 18Sequence analysisAdd BLAST18
<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_000003587919 – 529TyrosinaseAdd BLAST511

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>Glycosylationi86N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi111N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi161N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi230N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi337N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi371N-linked (GlcNAc...) asparagineSequence analysis1

<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

Glycosylated.By similarity

Keywords - PTMi

Glycoprotein

Proteomic databases

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

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PaxDbi
P14679

PeptideAtlas

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PeptideAtlasi
P14679

PRoteomics IDEntifications database

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PRIDEi
P14679

ProteomicsDB human proteome resource

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ProteomicsDBi
53077
53078 [P14679-2]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
P14679

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

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PhosphoSitePlusi
P14679

<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 reports the experimentally proven effects of inducers and repressors (usually chemical compounds or environmental factors) on the level of protein (or mRNA) expression (up-regulation, down-regulation, constitutive expression).<p><a href='/help/induction' target='_top'>More...</a></p>Inductioni

Increased expression after UVB irradiation.

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000077498 Expressed in 28 organ(s), highest expression level in pigmented layer of retina

CleanEx database of gene expression profiles

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CleanExi
HS_TYR

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
P14679 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P14679 HS

Organism-specific databases

Human Protein Atlas

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HPAi
CAB000079
HPA043241
HPA050889

<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

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
113150, 1 interactor

STRING: functional protein association networks

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STRINGi
9606.ENSP00000263321

Chemistry databases

BindingDB database of measured binding affinities

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BindingDBi
P14679

<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

3D structure databases

Protein Model Portal of the PSI-Nature Structural Biology Knowledgebase

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ProteinModelPortali
P14679

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

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SMRi
P14679

Database of comparative protein structure models

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ModBasei
Search...

MobiDB: a database of protein disorder and mobility annotations

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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

<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 tyrosinase family.Curated

Keywords - Domaini

Signal, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
ENOG410IEZU Eukaryota
ENOG410Y42I LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000155336

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG003553

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
P14679

KEGG Orthology (KO)

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KOi
K00505

Identification of Orthologs from Complete Genome Data

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OMAi
PNCTEKR

Database of Orthologous Groups

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OrthoDBi
881347at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
P14679

TreeFam database of animal gene trees

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TreeFami
TF315865

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
1.10.1280.10, 1 hit

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR002227 Tyrosinase_Cu-bd
IPR008922 Unchr_di-copper_centre

Pfam protein domain database

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Pfami
View protein in Pfam
PF00264 Tyrosinase, 1 hit

Protein Motif fingerprint database; a protein domain database

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PRINTSi
PR00092 TYROSINASE

Superfamily database of structural and functional annotation

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SUPFAMi
SSF48056 SSF48056, 1 hit

PROSITE; a protein domain and family database

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PROSITEi
View protein in PROSITE
PS00497 TYROSINASE_1, 1 hit
PS00498 TYROSINASE_2, 1 hit

<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 (2)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 2 <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
Isoform 1 (identifier: P14679-1) [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
MLLAVLYCLL WSFQTSAGHF PRACVSSKNL MEKECCPPWS GDRSPCGQLS
60 70 80 90 100
GRGSCQNILL SNAPLGPQFP FTGVDDRESW PSVFYNRTCQ CSGNFMGFNC
110 120 130 140 150
GNCKFGFWGP NCTERRLLVR RNIFDLSAPE KDKFFAYLTL AKHTISSDYV
160 170 180 190 200
IPIGTYGQMK NGSTPMFNDI NIYDLFVWMH YYVSMDALLG GSEIWRDIDF
210 220 230 240 250
AHEAPAFLPW HRLFLLRWEQ EIQKLTGDEN FTIPYWDWRD AEKCDICTDE
260 270 280 290 300
YMGGQHPTNP NLLSPASFFS SWQIVCSRLE EYNSHQSLCN GTPEGPLRRN
310 320 330 340 350
PGNHDKSRTP RLPSSADVEF CLSLTQYESG SMDKAANFSF RNTLEGFASP
360 370 380 390 400
LTGIADASQS SMHNALHIYM NGTMSQVQGS ANDPIFLLHH AFVDSIFEQW
410 420 430 440 450
LRRHRPLQEV YPEANAPIGH NRESYMVPFI PLYRNGDFFI SSKDLGYDYS
460 470 480 490 500
YLQDSDPDSF QDYIKSYLEQ ASRIWSWLLG AAMVGAVLTA LLAGLVSLLC
510 520
RHKRKQLPEE KQPLLMEKED YHSLYQSHL
Length:529
Mass (Da):60,393
Last modified:July 1, 1993 - v3
<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:i67211A91608A59E1
GO
Isoform 2 (identifier: P14679-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     346-377: GFASPLTGIADASQSSMHNALHIYMNGTMSQV → EMGFLHVGWAGLKLLTSRDPPPWPPKMLGLQA
     378-529: Missing.

Note: No experimental confirmation available.
Show »
Length:377
Mass (Da):42,914
Checksum:iE4E415B71C60359B
GO

<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 AAA61241 differs from that shown. Reason: Erroneous initiation.Curated
The sequence CAA68756 differs from that shown. Reason: Erroneous initiation.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section reports difference(s) between the canonical sequence (displayed by default in the entry) and the different sequence submissions merged in the entry. These various submissions may originate from different sequencing projects, different types of experiments, or different biological samples. Sequence conflicts are usually of unknown origin.<p><a href='/help/conflict' target='_top'>More...</a></p>Sequence conflicti42 – 45DRSP → TGV in AAA61241 (PubMed:2823263).Curated4
Sequence conflicti179M → I in CAA68756 (PubMed:2499655).Curated1
Sequence conflicti373 – 378TMSQVQ → HVPGT in AAA61241 (PubMed:2823263).Curated6
Sequence conflicti495L → P in AAA61241 (PubMed:2823263).Curated1
Sequence conflicti495L → P in AAA61244 (PubMed:2823263).Curated1
Sequence conflicti520 – 523DYHS → GLPQ (PubMed:2823263).Curated4
Sequence conflicti525 – 528YQSH → VSEPFIKGLGNRVGPKSPDL TLTQSNVQVPENICWYFL (PubMed:2823263).Curated4

<p>This subsection of the ‘Sequence’ section provides information on polymorphic variants. If the variant is associated with a disease state, the description of the latter can be found in the <a href="http://www.uniprot.org/manual/involvement_in_disease">'Involvement in disease'</a> subsection.<p><a href='/help/polymorphism' target='_top'>More...</a></p>Polymorphismi

Genetic variants in TYR define the skin/hair/eye pigmentation variation locus 3 (SHEP3) [MIMi:601800]. Hair, eye and skin pigmentation are among the most visible examples of human phenotypic variation, with a broad normal range that is subject to substantial geographic stratification. In the case of skin, individuals tend to have lighter pigmentation with increasing distance from the equator. By contrast, the majority of variation in human eye and hair color is found among individuals of European ancestry, with most other human populations fixed for brown eyes and black hair.2 Publications
Compound heterozygosity for the R402Q polymorphism and a mutant allele of TYR is a common cause of autosomal recessive ocular albinism. The R402Q polymorphism is also found in Waardenburg syndrome type II with ocular albinism (WS2-OA) in association with a deletion in the MITF gene.3 Publications

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_00764919H → Q in OCA1A. Corresponds to variant dbSNP:rs61753177EnsemblClinVar.1
Natural variantiVAR_00765021P → S in OCA1A. 1 PublicationCorresponds to variant dbSNP:rs61753178EnsemblClinVar.1
Natural variantiVAR_02168336C → Y in OCA1A. 1 PublicationCorresponds to variant dbSNP:rs61753179EnsemblClinVar.1
Natural variantiVAR_00765142D → G in OCA1A. 1 PublicationCorresponds to variant dbSNP:rs28940878EnsemblClinVar.1
Natural variantiVAR_02168444S → G in OCA1A. 1 Publication1
Natural variantiVAR_02168544S → R in OCA1A. 1 PublicationCorresponds to variant dbSNP:rs755700581Ensembl.1
Natural variantiVAR_00765247G → D in OCA1A. 3 PublicationsCorresponds to variant dbSNP:rs61753180EnsemblClinVar.1
Natural variantiVAR_02168647G → V in OCA1A. 1 Publication1
Natural variantiVAR_07259250S → L in OCA1A. 1 PublicationCorresponds to variant dbSNP:rs61753181Ensembl.1
Natural variantiVAR_00765352R → I in OCA1. Corresponds to variant dbSNP:rs61753182EnsemblClinVar.1
Natural variantiVAR_00765455C → Y in OCA1A. 2 PublicationsCorresponds to variant dbSNP:rs28940879EnsemblClinVar.1
Natural variantiVAR_02168768Q → H in OCA1A. 1 Publication1
Natural variantiVAR_00765577R → Q in OCA1A. 3 PublicationsCorresponds to variant dbSNP:rs61753185EnsemblClinVar.1
Natural variantiVAR_00923677R → RR in OCA1A. 1 Publication1
Natural variantiVAR_00765677R → W in OCA1A. 2 PublicationsCorresponds to variant dbSNP:rs61753184EnsemblClinVar.1
Natural variantiVAR_02168879S → L in OCA1A. 1 PublicationCorresponds to variant dbSNP:rs544053015Ensembl.1
Natural variantiVAR_00765780W → R in OCA1A. Corresponds to variant dbSNP:rs61753188EnsemblClinVar.1
Natural variantiVAR_00765881P → L in OCA1A. 3 PublicationsCorresponds to variant dbSNP:rs28940876EnsemblClinVar.1
Natural variantiVAR_00765989C → R in OCA1A. 1 PublicationCorresponds to variant dbSNP:rs28940877EnsemblClinVar.1
Natural variantiVAR_07259391C → Y in OCA1A. 1 PublicationCorresponds to variant dbSNP:rs137854890EnsemblClinVar.1
Natural variantiVAR_00766097G → R in OCA1A. 1 PublicationCorresponds to variant dbSNP:rs61753252EnsemblClinVar.1
Natural variantiVAR_021689109G → R in OCA1A. 1 PublicationCorresponds to variant dbSNP:rs61753253EnsemblClinVar.1
Natural variantiVAR_034576134F → C. Corresponds to variant dbSNP:rs33955261Ensembl.1
Natural variantiVAR_042665142K → N. Corresponds to variant dbSNP:rs11545463Ensembl.1
Natural variantiVAR_007925152P → S in OCA1B. 1 PublicationCorresponds to variant dbSNP:rs145513733Ensembl.1
Natural variantiVAR_021690155T → S in OCA1A. 1 Publication1
Natural variantiVAR_007661176F → I in OCA1A. 1 PublicationCorresponds to variant dbSNP:rs61753259EnsemblClinVar.1
Natural variantiVAR_021691177V → F in OCA1A. 1 PublicationCorresponds to variant dbSNP:rs138487695Ensembl.1
Natural variantiVAR_021692179M → L in OCA1A. 1 Publication1
Natural variantiVAR_021693180H → N in OCA1A. 1 PublicationCorresponds to variant dbSNP:rs779878377Ensembl.1
Natural variantiVAR_007662192S → Y Associated with SHEP3; light/dark skin. 7 PublicationsCorresponds to variant dbSNP:rs1042602EnsemblClinVar.1
Natural variantiVAR_071756198I → T in OCA1A. 1 PublicationCorresponds to variant dbSNP:rs750553908Ensembl.1
Natural variantiVAR_021694199D → N in OCA1A. 1 PublicationCorresponds to variant dbSNP:rs1338186937Ensembl.1
Natural variantiVAR_021695201A → S in OCA1A. 1 Publication1
Natural variantiVAR_021696205P → T in OCA1A. 1 PublicationCorresponds to variant dbSNP:rs61754362EnsemblClinVar.1
Natural variantiVAR_007663206A → T in OCA1A. 1 PublicationCorresponds to variant dbSNP:rs28940880EnsemblClinVar.1
Natural variantiVAR_007664216L → M in OCA1A. Corresponds to variant dbSNP:rs61754363EnsemblClinVar.1
Natural variantiVAR_007665217R → G in OCA1A. Corresponds to variant dbSNP:rs63159160EnsemblClinVar.1
Natural variantiVAR_007667217R → Q in OCA1A. 2 PublicationsCorresponds to variant dbSNP:rs61754365EnsemblClinVar.1
Natural variantiVAR_021697217R → S in OCA1A. 1 Publication1
Natural variantiVAR_007666217R → W in OCA1A. 2 PublicationsCorresponds to variant dbSNP:rs63159160EnsemblClinVar.1
Natural variantiVAR_007926217Missing in OCA1A. 1
Natural variantiVAR_021698227Missing in OCA1A. 1
Natural variantiVAR_021699236W → L in OCA1A. 1 Publication1
Natural variantiVAR_021700236W → S in OCA1A. 1 PublicationCorresponds to variant dbSNP:rs61754367EnsemblClinVar.1
Natural variantiVAR_021701239R → W in OCA1A. 1 PublicationCorresponds to variant dbSNP:rs774670098Ensembl.1
Natural variantiVAR_021702240D → V in OCA1A. 1 Publication1
Natural variantiVAR_021703243K → T in OCA1A. 1 Publication1
Natural variantiVAR_007668253G → R in OCA1A. Corresponds to variant dbSNP:rs61754369EnsemblClinVar.1
Natural variantiVAR_021704256H → Y in OCA1A. 2 PublicationsCorresponds to variant dbSNP:rs61754370EnsemblClinVar.1
Natural variantiVAR_021705272W → C in OCA1A. 1 PublicationCorresponds to variant dbSNP:rs62645902EnsemblClinVar.1
Natural variantiVAR_007669275V → F in OCA1B and OCA1A. 3 PublicationsCorresponds to variant dbSNP:rs104894314EnsemblClinVar.1
Natural variantiVAR_007927288L → S in OCA1A. Corresponds to variant dbSNP:rs1463109821Ensembl.1
Natural variantiVAR_009237289C → G in OCA1A. 1 Publication1
Natural variantiVAR_007670289C → R in OCA1A. 2 PublicationsCorresponds to variant dbSNP:rs1468041471Ensembl.1
Natural variantiVAR_021706294E → G in OCA1A. 1 Publication1
Natural variantiVAR_007928294E → K in OCA1A and OCA1B. 3 PublicationsCorresponds to variant dbSNP:rs757754120EnsemblClinVar.1
Natural variantiVAR_072594298R → W in OCA1A. 1 PublicationCorresponds to variant dbSNP:rs200854796Ensembl.1
Natural variantiVAR_007671299R → H in OCA1A. 3 PublicationsCorresponds to variant dbSNP:rs61754375EnsemblClinVar.1
Natural variantiVAR_007672299R → S in OCA1A. 1 PublicationCorresponds to variant dbSNP:rs61754374EnsemblClinVar.1
Natural variantiVAR_011825308R → T. Corresponds to variant dbSNP:rs1042608Ensembl.1
Natural variantiVAR_007673312L → V in OCA1. Corresponds to variant dbSNP:rs61754377EnsemblClinVar.1
Natural variantiVAR_007674313P → R in OCA1. Corresponds to variant dbSNP:rs61754378EnsemblClinVar.1
Natural variantiVAR_021707318V → E in OCA1A. 1 Publication1
Natural variantiVAR_007675325T → A in OCA1B. Corresponds to variant dbSNP:rs61754379EnsemblClinVar.1
Natural variantiVAR_007929328E → Q in OCA1A. 1 PublicationCorresponds to variant dbSNP:rs61754380EnsemblClinVar.1
Natural variantiVAR_021708329S → P in OCA1A. 1 Publication1
Natural variantiVAR_021709332M → T in OCA1A. 1 PublicationCorresponds to variant dbSNP:rs372534292Ensembl.1
Natural variantiVAR_007676339S → G in OCA1A. 1 PublicationCorresponds to variant dbSNP:rs62645906EnsemblClinVar.1
Natural variantiVAR_007677340F → L in OCA1. Corresponds to variant dbSNP:rs62645907EnsemblClinVar.1
Natural variantiVAR_021710345E → G in OCA1A. 1 Publication1
Natural variantiVAR_007930346G → E in OCA1A. Corresponds to variant dbSNP:rs773970123Ensembl.1
Natural variantiVAR_007931355A → E in OCA1A. 1
Natural variantiVAR_007678355A → P in OCA1A. 3 PublicationsCorresponds to variant dbSNP:rs62645908EnsemblClinVar.1
Natural variantiVAR_072595355A → V in OCA1A. 1 PublicationCorresponds to variant dbSNP:rs151206295EnsemblClinVar.1
Natural variantiVAR_007932361S → R in OCA1A. 1 PublicationCorresponds to variant dbSNP:rs61754383EnsemblClinVar.1
Natural variantiVAR_072596364N → H in OCA1A. 1 Publication1
Natural variantiVAR_007933367H → Y in OCA1A. 1 PublicationCorresponds to variant dbSNP:rs776054795Ensembl.1
Natural variantiVAR_007934370M → T in OCA1A. 1 PublicationCorresponds to variant dbSNP:rs61754385EnsemblClinVar.1
Natural variantiVAR_007679371N → T in OCA1A. Corresponds to variant dbSNP:rs61754387EnsemblClinVar.1
Natural variantiVAR_007935371N → Y in OCA1A. 2 PublicationsCorresponds to variant dbSNP:rs61754386EnsemblClinVar.1
Natural variantiVAR_007680373T → K in OCA1A. 7 PublicationsCorresponds to variant dbSNP:rs61754388EnsemblClinVar.1
Natural variantiVAR_021711378Q → K in OCA1A. 1 Publication1
Natural variantiVAR_007681380S → P in OCA1B. Corresponds to variant dbSNP:rs61754391EnsemblClinVar.1
Natural variantiVAR_007682382N → K in OCA1A. Corresponds to variant dbSNP:rs104894315EnsemblClinVar.1
Natural variantiVAR_007683383D → N in OCA1A. 3 PublicationsCorresponds to variant dbSNP:rs121908011EnsemblClinVar.1
Natural variantiVAR_072597384P → A in OCA1A. 1 Publication1
Natural variantiVAR_007684390H → D in OCA1B. Corresponds to variant dbSNP:rs62645914EnsemblClinVar.1
Natural variantiVAR_007936393V → F in OCA1A. 1 Publication1
Natural variantiVAR_007685395S → N in OCA1A. Corresponds to variant dbSNP:rs752344007Ensembl.1
Natural variantiVAR_021712395S → R in OCA1A. 1 Publication1
Natural variantiVAR_021713398E → A in OCA1A. 1 Publication1
Natural variantiVAR_021714398E → V in OCA1A. 1 Publication1
Natural variantiVAR_009238400W → L in OCA1A. 1 PublicationCorresponds to variant dbSNP:rs62645916EnsemblClinVar.1
Natural variantiVAR_007937402R → G in OCA1B. 1
Natural variantiVAR_021715402R → L in OCA1A. 1 Publication1
Natural variantiVAR_007686402R → Q5 PublicationsCorresponds to variant dbSNP:rs1126809EnsemblClinVar.1
Natural variantiVAR_007687403R → S in OCA1A and OCA1B. 3 PublicationsCorresponds to variant dbSNP:rs104894316EnsemblClinVar.1
Natural variantiVAR_021716404H → N in OCA1A. 1 Publication1
Natural variantiVAR_007688404H → P in OCA-I. Corresponds to variant dbSNP:rs62645920EnsemblClinVar.1
Natural variantiVAR_021717405R → L in OCA1A. 1 Publication1
Natural variantiVAR_007689406P → L in OCA1A and OCA1B. 3 PublicationsCorresponds to variant dbSNP:rs104894313EnsemblClinVar.1
Natural variantiVAR_021718408Q → H in OCA1A. 1 Publication1
Natural variantiVAR_021719409E → D in OCA1A. 1 Publication1
Natural variantiVAR_021720416A → S in OCA1A. 1 Publication1
Natural variantiVAR_021721417P → H in OCA1A. 1 Publication1
Natural variantiVAR_007690419G → R in OCA1A. 4 PublicationsCorresponds to variant dbSNP:rs61754392EnsemblClinVar.1
Natural variantiVAR_007691422R → Q in OCA1A and OCA1B; temperature sensitive variant. 3 PublicationsCorresponds to variant dbSNP:rs61754393EnsemblClinVar.1
Natural variantiVAR_021722424S → F in OCA1A. 1 PublicationCorresponds to variant dbSNP:rs758747581Ensembl.1
Natural variantiVAR_021723426M → K in OCA1A. 1 PublicationCorresponds to variant dbSNP:rs1362285246Ensembl.1
Natural variantiVAR_021724427V → G in OCA1A. 1 Publication1
Natural variantiVAR_007938431P → L in OCA1A. 1 PublicationCorresponds to variant dbSNP:rs281865325EnsemblClinVar.1
Natural variantiVAR_021725434R → I in OCA1A. 1 Publication1
Natural variantiVAR_021726435N → D in OCA1A. 1 Publication1
Natural variantiVAR_021727439F → V in OCA1A. 1 PublicationCorresponds to variant dbSNP:rs281865327EnsemblClinVar.1
Natural variantiVAR_021728444D → G in OCA1A. 1 Publication1
Natural variantiVAR_007692446G → S in OCA1A. 3 PublicationsCorresponds to variant dbSNP:rs104894317EnsemblClinVar.1
Natural variantiVAR_007693448D → N in OCA1A. 3 PublicationsCorresponds to variant dbSNP:rs104894318EnsemblClinVar.1
Natural variantiVAR_072598490A → D in OCA1A. 1 Publication