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Entry version 183 (13 Nov 2019)
Sequence version 2 (01 Jan 1998)
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Protein

Myocilin

Gene

MYOC

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

Secreted glycoprotein regulating the activation of different signaling pathways in adjacent cells to control different processes including cell adhesion, cell-matrix adhesion, cytoskeleton organization and cell migration. Promotes substrate adhesion, spreading and formation of focal contacts. Negatively regulates cell-matrix adhesion and stress fiber assembly through Rho protein signal transduction. Modulates the organization of actin cytoskeleton by stimulating the formation of stress fibers through interactions with components of Wnt signaling pathways. Promotes cell migration through activation of PTK2 and the downstream phosphatidylinositol 3-kinase signaling. Plays a role in bone formation and promotes osteoblast differentiation in a dose-dependent manner through mitogen-activated protein kinase signaling. Mediates myelination in the peripheral nervous system through ERBB2/ERBB3 signaling. Plays a role as a regulator of muscle hypertrophy through the components of dystrophin-associated protein complex. Involved in positive regulation of mitochondrial depolarization. Plays a role in neurite outgrowth. May participate in the obstruction of fluid outflow in the trabecular meshwork.By similarity8 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/help/function_section">Function</a> 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 bindingi380CalciumCombined sources1
Metal bindingi428CalciumCombined sources1
Metal bindingi429Calcium; via carbonyl oxygenCombined sources1
Metal bindingi477Calcium; via carbonyl oxygenCombined sources1
Metal bindingi478CalciumCombined sources1

<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, Metal-binding

<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:
Myocilin1 Publication
Alternative name(s):
Myocilin 55 kDa subunit
Trabecular meshwork-induced glucocorticoid response protein1 Publication
Cleaved into the following 2 chains:
Alternative name(s):
Myocilin 20 kDa N-terminal fragment
Alternative name(s):
Myocilin 35 kDa N-terminal fragment
<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:MYOC
Synonyms:GLC1A, TIGR1 Publication
<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

Human Gene Nomenclature Database

More...
HGNCi
HGNC:7610 MYOC

Online Mendelian Inheritance in Man (OMIM)

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MIMi
601652 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q99972

<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 & Seán O’Donoghue; Source: COMPARTMENTS

Keywords - Cellular componenti

Cell projection, Cilium, Cytoplasmic vesicle, Endoplasmic reticulum, Extracellular matrix, Golgi apparatus, Membrane, Mitochondrion, Mitochondrion inner membrane, Mitochondrion outer 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

Glaucoma 1, open angle, A (GLC1A)36 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of primary open angle glaucoma (POAG). POAG is characterized by a specific pattern of optic nerve and visual field defects. The angle of the anterior chamber of the eye is open, and usually the intraocular pressure is increased. However, glaucoma can occur at any intraocular pressure. The disease is generally asymptomatic until the late stages, by which time significant and irreversible optic nerve damage has already taken place.
Related information in OMIM
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_05427125C → R in GLC1A. 1 PublicationCorresponds to variant dbSNP:rs755246983Ensembl.1
Natural variantiVAR_05427248Q → H in GLC1A and GLC3A; the GLC3A patient also carries mutation H-368 in CYP1B1 suggesting digenic inheritance. 2 PublicationsCorresponds to variant dbSNP:rs74315339EnsemblClinVar.1
Natural variantiVAR_00896953V → A in GLC1A. 1 PublicationCorresponds to variant dbSNP:rs200208925EnsemblClinVar.1
Natural variantiVAR_00967182R → C in GLC1A. Corresponds to variant dbSNP:rs764005392Ensembl.1
Natural variantiVAR_054277126R → W in GLC1A. 1 PublicationCorresponds to variant dbSNP:rs200120115Ensembl.1
Natural variantiVAR_054278158R → Q in GLC1A. 1 PublicationCorresponds to variant dbSNP:rs199746824Ensembl.1
Natural variantiVAR_014943208D → E in GLC1A; unknown pathological significance. 3 PublicationsCorresponds to variant dbSNP:rs2234927Ensembl.1
Natural variantiVAR_054280244G → V in GLC1A; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs757769997Ensembl.1
Natural variantiVAR_054281245C → Y in GLC1A; forms homomultimeric complexes that migrate at molecular weights larger than their wild-type counterparts; these mutant complexes remain sequestered intracellularly. 1 PublicationCorresponds to variant dbSNP:rs74315340EnsemblClinVar.1
Natural variantiVAR_005468246G → R in GLC1A. 1 Publication1
Natural variantiVAR_054282251V → A in GLC1A. 1 Publication1
Natural variantiVAR_054283252G → R in GLC1A. 4 PublicationsCorresponds to variant dbSNP:rs74315341EnsemblClinVar.1
Natural variantiVAR_054284261E → K in GLC1A. 1 PublicationCorresponds to variant dbSNP:rs982896610Ensembl.1
Natural variantiVAR_054285272R → G in GLC1A; unknown pathological significance. 1 Publication1
Natural variantiVAR_054286274P → R in GLC1A. 1 Publication1
Natural variantiVAR_009675286W → R in GLC1A. Corresponds to variant dbSNP:rs1351328951Ensembl.1
Natural variantiVAR_009676293T → K in GLC1A; no effect on protein stability. 3 PublicationsCorresponds to variant dbSNP:rs139122673Ensembl.1
Natural variantiVAR_054287300E → K in GLC1A; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs748621461Ensembl.1
Natural variantiVAR_054288323E → K in GLC1A; inhibits endoproteolytic processing; mainly accumulates as insoluble aggregates inside the endoplasmic reticulum. 2 Publications1
Natural variantiVAR_054289337Q → E in GLC1A. 1 Publication1
Natural variantiVAR_005469337Q → R in GLC1A. 1 PublicationCorresponds to variant dbSNP:rs74315335EnsemblClinVar.1
Natural variantiVAR_054290341S → P in GLC1A. 1 Publication1
Natural variantiVAR_054291342R → K in GLC1A. 1 Publication1
Natural variantiVAR_054292345I → M in GLC1A. 1 Publication1
Natural variantiVAR_009678352E → K in GLC1A; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs61745146Ensembl.1
Natural variantiVAR_009679353T → I in GLC1A; unknown pathological significance; no significant effect on protein stability. 4 PublicationsCorresponds to variant dbSNP:rs137853277Ensembl.1
Natural variantiVAR_054293360I → N in GLC1A. 2 Publications1
Natural variantiVAR_009680361P → S in GLC1A. Corresponds to variant dbSNP:rs1344039930Ensembl.1
Natural variantiVAR_054294363A → T in GLC1A. 2 Publications1
Natural variantiVAR_005470364G → V in GLC1A. 1 PublicationCorresponds to variant dbSNP:rs121909193EnsemblClinVar.1
Natural variantiVAR_005471367G → R in GLC1A. 7 PublicationsCorresponds to variant dbSNP:rs74315334EnsemblClinVar.1
Natural variantiVAR_054295369F → L in GLC1A. 1 Publication1
Natural variantiVAR_005472370P → L in GLC1A; severe form; inhibits endoproteolytic processing; produced the highest inhibition of the endoproteolytic processing; mainly accumulates as insoluble aggregates inside the endoplasmic reticulum; inhibits neurite outgrowth. 9 PublicationsCorresponds to variant dbSNP:rs74315330EnsemblClinVar.1
Natural variantiVAR_054296377T → K in GLC1A. 1 Publication1
Natural variantiVAR_009681377T → M in GLC1A. 2 PublicationsCorresponds to variant dbSNP:rs566289099Ensembl.1
Natural variantiVAR_009682380D → A in GLC1A; incomplete penetrance; inhibits endoproteolytic processing; mainly accumulates as insoluble aggregates inside the endoplasmic reticulum. 1 Publication1
Natural variantiVAR_009683380D → G in GLC1A. 1 Publication1
Natural variantiVAR_054297380D → H in GLC1A. 1 PublicationCorresponds to variant dbSNP:rs121909194EnsemblClinVar.1
Natural variantiVAR_054298380D → N in GLC1A. 1 Publication1
Natural variantiVAR_054299393S → N in GLC1A. 1 Publication1
Natural variantiVAR_009684393S → R in GLC1A. Corresponds to variant dbSNP:rs998968146Ensembl.1
Natural variantiVAR_054300399G → V in GLC1A. 1 PublicationCorresponds to variant dbSNP:rs28936694EnsemblClinVar.1
Natural variantiVAR_009688422R → H in GLC1A. Corresponds to variant dbSNP:rs201573718Ensembl.1
Natural variantiVAR_009689423K → E in GLC1A; heterozygote specific phenotype. 3 PublicationsCorresponds to variant dbSNP:rs74315336EnsemblClinVar.1
Natural variantiVAR_005473426V → F in GLC1A. 2 Publications1
Natural variantiVAR_054302427A → T in GLC1A. 1 PublicationCorresponds to variant dbSNP:rs754237376Ensembl.1
Natural variantiVAR_008970433C → R in GLC1A; severe form. 1 PublicationCorresponds to variant dbSNP:rs74315338EnsemblClinVar.1
Natural variantiVAR_054303434G → S in GLC1A. 1 PublicationCorresponds to variant dbSNP:rs1200513428Ensembl.1
Natural variantiVAR_005474437Y → H in GLC1A. 2 PublicationsCorresponds to variant dbSNP:rs74315328EnsemblClinVar.1
Natural variantiVAR_054304438T → I in GLC1A. 1 Publication1
Natural variantiVAR_009691445A → V in GLC1A; no effect on protein stability. 3 PublicationsCorresponds to variant dbSNP:rs140967767EnsemblClinVar.1
Natural variantiVAR_054305448T → P in GLC1A. 2 Publications1
Natural variantiVAR_054306450N → D in GLC1A. 1 Publication1
Natural variantiVAR_009692465I → M in GLC1A. 1
Natural variantiVAR_009693470R → C in GLC1A. 1 PublicationCorresponds to variant dbSNP:rs771122834Ensembl.1
Natural variantiVAR_054308471Y → C in GLC1A; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs554235897Ensembl.1
Natural variantiVAR_009695477I → N in GLC1A; induces stress fiber formation in only 5% of cells. 2 PublicationsCorresponds to variant dbSNP:rs74315331EnsemblClinVar.1
Natural variantiVAR_005475477I → S in GLC1A. 1 PublicationCorresponds to variant dbSNP:rs74315331EnsemblClinVar.1
Natural variantiVAR_005476480N → K in GLC1A. 2 PublicationsCorresponds to variant dbSNP:rs74315332EnsemblClinVar.1
Natural variantiVAR_009696481P → L in GLC1A. 1 Publication1
Natural variantiVAR_009697481P → T in GLC1A. 1
Natural variantiVAR_005477499I → F in GLC1A. 2 Publications1
Natural variantiVAR_054309499I → S in GLC1A. 1 Publication1
Natural variantiVAR_009700502S → P in GLC1A. 1 Publication1
Glaucoma 3, primary congenital, A (GLC3A)1 Publication
The disease is caused by mutations affecting distinct genetic loci, including the gene represented in this entry. MYOC mutations may contribute to GLC3A via digenic inheritance with CYP1B1 and/or another locus associated with the disease (PubMed:15733270).1 Publication
Disease descriptionAn autosomal recessive form of primary congenital glaucoma (PCG). PCG is characterized by marked increase of intraocular pressure at birth or early childhood, large ocular globes (buphthalmos) and corneal edema. It results from developmental defects of the trabecular meshwork and anterior chamber angle of the eye that prevent adequate drainage of aqueous humor.
Related information in OMIM
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_05427248Q → H in GLC1A and GLC3A; the GLC3A patient also carries mutation H-368 in CYP1B1 suggesting digenic inheritance. 2 PublicationsCorresponds to variant dbSNP:rs74315339EnsemblClinVar.1

Mutagenesis

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the <a href="http://www.uniprot.org/manual/pathology_and_biotech_section">'Pathology and Biotech'</a> section describes the effect of the experimental mutation of one or more amino acid(s) on the biological properties of the protein.<p><a href='/help/mutagen' target='_top'>More...</a></p>Mutagenesisi226 – 230Missing : Impairs endoproteolytic processing. 1 Publication5
Mutagenesisi226R → A: Reduced processing. Impairs endoproteolytic processing; when associated with A-229 or A-230. Completely processed after 6 days of expression, and releases a C-terminal fragment with similar electrophoretic mobility to that obtained by processing wild-type myocilin; when associated with A-229 or A-230. 1 Publication1
Mutagenesisi226R → Q: Slightly increases endoproteolytic processing. 1 Publication1
Mutagenesisi227I → G: Reduced processing. 1 Publication1
Mutagenesisi229K → A: Completely blocks endoproteolytic processing; when associated with A-226. Completely processed after 6 days of expression, and releases a C-terminal fragment with similar electrophoretic mobility to that obtained by processing wild-type myocilin; when associated with A-226. 1 Publication1
Mutagenesisi230E → A: Impairs endoproteolytic processing; when associated with A-226. Completely processed after 6 days of expression, and released a C-terminal fragment with similar electrophoretic mobility to that obtained by processing wild-type myocilin; when associated with A-226. 1 Publication1

Keywords - Diseasei

Disease mutation, Glaucoma

Organism-specific databases

DisGeNET

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DisGeNETi
4653

MalaCards human disease database

More...
MalaCardsi
MYOC
MIMi137750 phenotype
231300 phenotype

Open Targets

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OpenTargetsi
ENSG00000034971

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

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Orphaneti
98976 Congenital glaucoma
98977 Juvenile glaucoma

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA31415

Miscellaneous databases

Pharos NIH Druggable Genome Knowledgebase

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Pharosi
Q99972

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

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ChEMBLi
CHEMBL4105967

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
MYOC

Domain mapping of disease mutations (DMDM)

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DMDMi
3024209

<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 – 322 PublicationsAdd BLAST32
<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_000002008433 – 504MyocilinAdd BLAST472
ChainiPRO_000042874933 – 226Myocilin, N-terminal fragmentAdd BLAST194
ChainiPRO_0000428750227 – 504Myocilin, C-terminal fragmentAdd BLAST278

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>Glycosylationi57N-linked (GlcNAc...) asparagine1 Publication1
<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 bondi245 ↔ 433PROSITE-ProRule annotationCombined sources1 Publication

<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

Different isoforms may arise by post-translational modifications.1 Publication
Glycosylated.4 Publications
Palmitoylated.By similarity
Undergoes a calcium-dependent proteolytic cleavage at Arg-226 by CAPN2 in the endoplasmic reticulum. The result is the production of two fragments, one of 35 kDa containing the C-terminal olfactomedin-like domain, and another of 20 kDa containing the N-terminal leucine zipper-like domain.2 Publications

Sites

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection describes interesting single amino acid sites on the sequence that are not defined in any other subsection. This subsection can be displayed in different sections (‘Function’, ‘PTM / Processing’, ‘Pathology and Biotech’) according to its content.<p><a href='/help/site' target='_top'>More...</a></p>Sitei226 – 227Cleavage; by CAPN22

Keywords - PTMi

Disulfide bond, Glycoprotein, Lipoprotein, Palmitate

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q99972

MassIVE - Mass Spectrometry Interactive Virtual Environment

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MassIVEi
Q99972

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

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PaxDbi
Q99972

PeptideAtlas

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PeptideAtlasi
Q99972

PRoteomics IDEntifications database

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PRIDEi
Q99972

ProteomicsDB: a multi-organism proteome resource

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ProteomicsDBi
78558

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

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iPTMneti
Q99972

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

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PhosphoSitePlusi
Q99972

<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

Detected in aqueous humor (PubMed:12697062). Detected in the eye (at protein level) (PubMed:11431441). Widely expressed. Highly expressed in various types of muscle, ciliary body, papillary sphincter, skeletal muscle, heart, and bone marrow-derived mesenchymal stem cells. Expressed predominantly in the retina. In normal eyes, found in the inner uveal meshwork region and the anterior portion of the meshwork. In contrast, in many glaucomatous eyes, it is found in more regions of the meshwork and seems to be expressed at higher levels than in normal eyes, regardless of the type or clinical severity of glaucoma. The myocilin 35 kDa fragment is detected in aqueous humor and to a lesser extent in iris and ciliary body.3 Publications

<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

Up-regulated by dexamethasone, a glucocorticoid.2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000034971 Expressed in 145 organ(s), highest expression level in mucosa of stomach

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q99972 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q99972 HS

Organism-specific databases

Human Protein Atlas

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HPAi
HPA027364

<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

Homodimer (via N-terminus). Can also form higher oligomers (PubMed:9497363).

Interacts with OLFM3, FN1, NRCAM, GLDN and NFASC (PubMed:12019210, PubMed:11773026, PubMed:23897819).

Interacts (via N-terminus) with MYL2 (PubMed:11773029).

Interacts with SFRP1, FRZB, FZD7, FZD10, FZD1 and WIF1; regulates Wnt signaling (PubMed:19188438).

Interacts with SNTA1; regulates muscle hypertrophy.

Interacts with ERBB2 and ERBB3; acivates ERBB2-ERBB3 signaling pathway.

Interacts with SNCG; affects its secretion and its aggregation (By similarity).

By similarity6 Publications

<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

GO - Molecular functioni

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
110736, 43 interactors

Protein interaction database and analysis system

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IntActi
Q99972, 4 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000037502

<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

1504
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details

3D structure databases

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

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SMRi
Q99972

Database of comparative protein structure models

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ModBasei
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Protein Data Bank in Europe - Knowledge Base

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PDBe-KBi
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<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>Domaini244 – 503Olfactomedin-likePROSITE-ProRule annotationAdd BLAST260

Coiled coil

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and domains’ section denotes the positions of regions of coiled coil within the protein.<p><a href='/help/coiled' target='_top'>More...</a></p>Coiled coili74 – 184Sequence analysisAdd BLAST111

Motif

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section describes a short (usually not more than 20 amino acids) conserved sequence motif of biological significance.<p><a href='/help/motif' target='_top'>More...</a></p>Motifi502 – 504Microbody targeting signalSequence analysis3

Keywords - Domaini

Coiled coil, Signal

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
ENOG410INPA Eukaryota
ENOG410YBJJ LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000158561

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000059654

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q99972

KEGG Orthology (KO)

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KOi
K23027

Identification of Orthologs from Complete Genome Data

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OMAi
ERKLFAW

Database of Orthologous Groups

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OrthoDBi
421994at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q99972

TreeFam database of animal gene trees

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TreeFami
TF315964

Family and domain databases

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR031213 Myocilin
IPR003112 Olfac-like_dom

The PANTHER Classification System

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PANTHERi
PTHR23192:SF33 PTHR23192:SF33, 1 hit

Pfam protein domain database

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Pfami
View protein in Pfam
PF02191 OLF, 1 hit

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00284 OLF, 1 hit

PROSITE; a protein domain and family database

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PROSITEi
View protein in PROSITE
PS51132 OLF, 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>. The information is filed in different subsections. The current subsections and their content are listed below:<p><a href='/help/sequences_section' target='_top'>More...</a></p>Sequence (1+)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 has 1 described isoform and 1 potential isoform that is computationally mapped.Show allAlign All

Q99972-1 [UniParc]FASTAAdd to basket
« Hide
        10         20         30         40         50
MRFFCARCCS FGPEMPAVQL LLLACLVWDV GARTAQLRKA NDQSGRCQYT
60 70 80 90 100
FSVASPNESS CPEQSQAMSV IHNLQRDSST QRLDLEATKA RLSSLESLLH
110 120 130 140 150
QLTLDQAARP QETQEGLQRE LGTLRRERDQ LETQTRELET AYSNLLRDKS
160 170 180 190 200
VLEEEKKRLR QENENLARRL ESSSQEVARL RRGQCPQTRD TARAVPPGSR
210 220 230 240 250
EVSTWNLDTL AFQELKSELT EVPASRILKE SPSGYLRSGE GDTGCGELVW
260 270 280 290 300
VGEPLTLRTA ETITGKYGVW MRDPKPTYPY TQETTWRIDT VGTDVRQVFE
310 320 330 340 350
YDLISQFMQG YPSKVHILPR PLESTGAVVY SGSLYFQGAE SRTVIRYELN
360 370 380 390 400
TETVKAEKEI PGAGYHGQFP YSWGGYTDID LAVDEAGLWV IYSTDEAKGA
410 420 430 440 450
IVLSKLNPEN LELEQTWETN IRKQSVANAF IICGTLYTVS SYTSADATVN
460 470 480 490 500
FAYDTGTGIS KTLTIPFKNR YKYSSMIDYN PLEKKLFAWD NLNMVTYDIK

LSKM
Length:504
Mass (Da):56,972
Last modified:January 1, 1998 - 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:i9588C04F1D227623
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 is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
A0A1W2PP09A0A1W2PP09_HUMAN
Myocilin
MYOC
63Annotation 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 BAA24532 differs from that shown. Reason: Erroneous initiation. Truncated N-terminus.Curated

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0096654F → S. 1
Natural variantiVAR_0096669C → S. 1
Natural variantiVAR_00966712G → R2 PublicationsCorresponds to variant dbSNP:rs199752860Ensembl.1
Natural variantiVAR_05426916P → L1 PublicationCorresponds to variant dbSNP:rs745439002Ensembl.1
Natural variantiVAR_05427017A → S1 Publication1
Natural variantiVAR_00966819Q → H1 PublicationCorresponds to variant dbSNP:rs2234925Ensembl.1
Natural variantiVAR_05427125C → R in GLC1A. 1 PublicationCorresponds to variant dbSNP:rs755246983Ensembl.1
Natural variantiVAR_05427248Q → H in GLC1A and GLC3A; the GLC3A patient also carries mutation H-368 in CYP1B1 suggesting digenic inheritance. 2 PublicationsCorresponds to variant dbSNP:rs74315339EnsemblClinVar.1
Natural variantiVAR_00896953V → A in GLC1A. 1 PublicationCorresponds to variant dbSNP:rs200208925EnsemblClinVar.1
Natural variantiVAR_05427357N → D1 Publication1
Natural variantiVAR_05427457N → S Loss of higher molecular weight isoform. 2 PublicationsCorresponds to variant dbSNP:rs561439247Ensembl.1
Natural variantiVAR_00966973N → S. 1
Natural variantiVAR_00967076R → K9 PublicationsCorresponds to variant dbSNP:rs2234926EnsemblClinVar.1
Natural variantiVAR_05427577D → E1 Publication1
Natural variantiVAR_00967182R → C in GLC1A. Corresponds to variant dbSNP:rs764005392Ensembl.1
Natural variantiVAR_00967282R → H. Corresponds to variant dbSNP:rs201552559Ensembl.1
Natural variantiVAR_05427695L → P1 Publication1
Natural variantiVAR_054277126R → W in GLC1A. 1 PublicationCorresponds to variant dbSNP:rs200120115Ensembl.1
Natural variantiVAR_054278158R → Q in GLC1A. 1 PublicationCorresponds to variant dbSNP:rs199746824Ensembl.1
Natural variantiVAR_009673189R → Q. Corresponds to variant dbSNP:rs144579767Ensembl.1
Natural variantiVAR_009674203S → F. 1
Natural variantiVAR_014943208D → E in GLC1A; unknown pathological significance. 3 PublicationsCorresponds to variant dbSNP:rs2234927Ensembl.1
Natural variantiVAR_054279215L → P1 PublicationCorresponds to variant dbSNP:rs531050114Ensembl.1
Natural variantiVAR_054280244G → V in GLC1A; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs757769997Ensembl.1
Natural variantiVAR_054281245C → Y in GLC1A; forms homomultimeric complexes that migrate at molecular weights larger than their wild-type counterparts; these mutant complexes remain sequestered intracellularly. 1 PublicationCorresponds to variant dbSNP:rs74315340EnsemblClinVar.1
Natural variantiVAR_005468246G → R in GLC1A. 1 Publication1
Natural variantiVAR_054282251V → A in GLC1A. 1 Publication1
Natural variantiVAR_054283252G → R in GLC1A. 4 PublicationsCorresponds to variant dbSNP:rs74315341EnsemblClinVar.1
Natural variantiVAR_054284261E → K in GLC1A. 1 PublicationCorresponds to variant dbSNP:rs982896610Ensembl.1
Natural variantiVAR_054285272R → G in GLC1A; unknown pathological significance. 1 Publication1
Natural variantiVAR_054286274P → R in GLC1A. 1 Publication1
Natural variantiVAR_009675286W → R in GLC1A. Corresponds to variant dbSNP:rs1351328951Ensembl.1
Natural variantiVAR_009676293T → K in GLC1A; no effect on protein stability. 3 PublicationsCorresponds to variant dbSNP:rs139122673Ensembl.1
Natural variantiVAR_054287300E → K in GLC1A; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs748621461Ensembl.1
Natural variantiVAR_054288323E → K in GLC1A; inhibits endoproteolytic processing; mainly accumulates as insoluble aggregates inside the endoplasmic reticulum. 2 Publications1
Natural variantiVAR_009677329V → M Slightly decreased protein stability. 2 PublicationsCorresponds to variant dbSNP:rs146391864Ensembl.1
Natural variantiVAR_054289337Q → E in GLC1A. 1 Publication1
Natural variantiVAR_005469337Q → R in GLC1A. 1 PublicationCorresponds to variant dbSNP:rs74315335EnsemblClinVar.1
Natural variantiVAR_054290341S → P in GLC1A. 1 Publication1
Natural variantiVAR_054291342R → K in GLC1A. 1 Publication1
Natural variantiVAR_054292345I → M in GLC1A. 1 Publication1
Natural variantiVAR_009678352E → K in GLC1A; unknown pathological significance. 2 PublicationsCorresponds to variant dbSNP:rs61745146Ensembl.1
Natural variantiVAR_009679353T → I in GLC1A; unknown pathological significance; no significant effect on protein stability. 4 PublicationsCorresponds to variant dbSNP:rs137853277Ensembl.1
Natural variantiVAR_054293360I → N in GLC1A. 2 Publications1
Natural variantiVAR_009680361P → S in GLC1A. Corresponds to variant dbSNP:rs1344039930Ensembl.1
Natural variantiVAR_054294363A → T in GLC1A. 2 Publications1
Natural variantiVAR_005470364G → V in GLC1A. 1 PublicationCorresponds to variant dbSNP:rs121909193EnsemblClinVar.1
Natural variantiVAR_005471367G → R in GLC1A. 7 PublicationsCorresponds to variant dbSNP:rs74315334EnsemblClinVar.1
Natural variantiVAR_054295369F → L in GLC1A. 1 Publication1
Natural variantiVAR_005472370P → L in GLC1A; severe form; inhibits endoproteolytic processing; produced the highest inhibition of the endoproteolytic processing; mainly accumulates as insoluble aggregates inside the endoplasmic reticulum; inhibits neurite outgrowth. 9 PublicationsCorresponds to variant dbSNP:rs74315330EnsemblClinVar.1
Natural variantiVAR_054296377T → K in GLC1A. 1 Publication1
Natural variantiVAR_009681377T → M in GLC1A. 2 PublicationsCorresponds to variant dbSNP:rs566289099Ensembl.1
Natural variantiVAR_009682380D → A in GLC1A; incomplete penetrance; inhibits endoproteolytic processing; mainly accumulates as insoluble aggregates inside the endoplasmic reticulum. 1 Publication1
Natural variantiVAR_009683380D → G in GLC1A. 1 Publication1
Natural variantiVAR_054297380D → H in GLC1A. 1 PublicationCorresponds to variant dbSNP:rs121909194EnsemblClinVar.1
Natural variantiVAR_054298380D → N in GLC1A. 1 Publication1
Natural variantiVAR_054299393S → N in GLC1A. 1 Publication1
Natural variantiVAR_009684393S → R in GLC1A. Corresponds to variant dbSNP:rs998968146Ensembl.1
Natural variantiVAR_009685398K → R5 PublicationsCorresponds to variant dbSNP:rs56314834EnsemblClinVar.1
Natural variantiVAR_054300399G → V in GLC1A. 1 PublicationCorresponds to variant dbSNP:rs28936694EnsemblClinVar.1
Natural variantiVAR_009686402V → I. 1
Natural variantiVAR_054301414E → K1 PublicationCorresponds to variant dbSNP:rs1351097164Ensembl.1
Natural variantiVAR_009687422R → C No effect on protein stability. 1 PublicationCorresponds to variant dbSNP:rs751113505Ensembl.1
Natural variantiVAR_009688422R → H in GLC1A. Corresponds to variant dbSNP:rs201573718Ensembl.1
Natural variantiVAR_009689423K → E in GLC1A; heterozygote specific phenotype. 3 PublicationsCorresponds to variant dbSNP:rs74315336EnsemblClinVar.1
Natural variantiVAR_009690425S → P Decreases protein stability. 1 Publication1
Natural variantiVAR_005473426V → F in GLC1A. 2 Publications1
Natural variantiVAR_054302427A → T in GLC1A. 1 PublicationCorresponds to variant dbSNP:rs754237376Ensembl.1
Natural variantiVAR_008970433C → R in GLC1A; severe form. 1 PublicationCorresponds to variant dbSNP:rs74315338EnsemblClinVar.1
Natural variantiVAR_054303434G → S in GLC1A. 1 PublicationCorresponds to variant dbSNP:rs1200513428Ensembl.1
Natural variantiVAR_005474437Y → H in GLC1A. 2 PublicationsCorresponds to variant dbSNP:rs74315328EnsemblClinVar.1
Natural variantiVAR_054304438T → I in GLC1A. 1 Publication1
Natural variantiVAR_009691445A → V in GLC1A; no effect on protein stability. 3 PublicationsCorresponds to variant dbSNP:rs140967767EnsemblClinVar.1
Natural variantiVAR_054305448T → P in GLC1A. 2 Publications1
Natural variantiVAR_054306450N → D in GLC1A. 1 Publication1
Natural variantiVAR_009692465I → M in GLC1A. 1
Natural variantiVAR_009693470R → C in GLC1A. 1 PublicationCorresponds to variant dbSNP:rs771122834Ensembl.1
Natural variantiVAR_054307