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Protein

Solute carrier family 12 member 3

Gene

SLC12A3

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

Electroneutral sodium and chloride ion cotransporter. In kidney distal convoluted tubules, key mediator of sodium and chloride reabsorption (PubMed:21613606, PubMed:22009145). Receptor for the proinflammatory cytokine IL18. Contributes to IL18-induced cytokine production, including IFNG, IL6, IL18 and CCL2. May act either independently of IL18R1, or in a complex with IL18R1 (By similarity).By similarity2 Publications

Miscellaneous

Target of thiazide diuretics used in the treatment of high blood pressure.1 Publication

<p>This subsection of the ‘Function’ section describes regulatory mechanisms for enzymes, transporters or microbial transcription factors, and reports the components which regulate (by activation or inhibition) the reaction.<p><a href='/help/activity_regulation' target='_top'>More...</a></p>Activity regulationi

Activated by WNK3.1 Publication

<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

Biological processIon transport, Sodium transport, Symport, Transport
LigandChloride, Sodium

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

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Reactomei
R-HSA-426117 Cation-coupled Chloride cotransporters
R-HSA-5619087 Defective SLC12A3 causes Gitelman syndrome (GS)

SIGNOR Signaling Network Open Resource

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SIGNORi
P55017

Protein family/group databases

Transport Classification Database

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TCDBi
2.A.30.1.12 the cation-chloride cotransporter (ccc) family

<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:
Solute carrier family 12 member 3
Alternative name(s):
Na-Cl cotransporter
Short name:
NCC
Na-Cl symporter
Thiazide-sensitive sodium-chloride cotransporter
<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:SLC12A3
Synonyms:NCC, TSC
<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 16

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000070915.9

Human Gene Nomenclature Database

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HGNCi
HGNC:10912 SLC12A3

Online Mendelian Inheritance in Man (OMIM)

More...
MIMi
600968 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_P55017

<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 domaini1 – 135CytoplasmicSequence analysisAdd BLAST135
<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>Transmembranei136 – 156HelicalSequence analysisAdd BLAST21
Transmembranei159 – 179HelicalSequence analysisAdd BLAST21
Topological domaini180 – 218CytoplasmicSequence analysisAdd BLAST39
Transmembranei219 – 239HelicalSequence analysisAdd BLAST21
Transmembranei262 – 282HelicalSequence analysisAdd BLAST21
Topological domaini283 – 286CytoplasmicSequence analysis4
Transmembranei287 – 307HelicalSequence analysisAdd BLAST21
Transmembranei340 – 360HelicalSequence analysisAdd BLAST21
Topological domaini361 – 377CytoplasmicSequence analysisAdd BLAST17
Transmembranei378 – 398HelicalSequence analysisAdd BLAST21
Transmembranei453 – 473HelicalSequence analysisAdd BLAST21
Topological domaini474 – 511CytoplasmicSequence analysisAdd BLAST38
Transmembranei512 – 532HelicalSequence analysisAdd BLAST21
Transmembranei535 – 555HelicalSequence analysisAdd BLAST21
Topological domaini556 – 577CytoplasmicSequence analysisAdd BLAST22
Transmembranei578 – 598HelicalSequence analysisAdd BLAST21
Transmembranei661 – 681HelicalSequence analysisAdd BLAST21
Topological domaini682 – 1021CytoplasmicSequence analysisAdd BLAST340

Keywords - Cellular componenti

Cell membrane, 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

Gitelman syndrome (GTLMNS)17 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAn autosomal recessive disorder characterized by hypokalemic alkalosis in combination with hypomagnesemia, low urinary calcium, and increased renin activity associated with normal blood pressure. Patients are often asymptomatic or present transient periods of muscular weakness and tetany, usually accompanied by abdominal pain, vomiting and fever. The phenotype is highly heterogeneous in terms of age at onset and severity. Cardinal features such as hypocalciuria and hypomagnesemia might also change during the life cycle of a given patient. It has overlapping features with Bartter syndrome.
See also OMIM:263800
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_03947560T → M in GTLMNS. 2 PublicationsCorresponds to variant dbSNP:rs371443644EnsemblClinVar.1
Natural variantiVAR_07593162D → H in GTLMNS. 1 PublicationCorresponds to variant dbSNP:rs757490496Ensembl.1
Natural variantiVAR_03947662D → N in GTLMNS. 1 Publication1
Natural variantiVAR_03947768E → K in GTLMNS. 1 PublicationCorresponds to variant dbSNP:rs763210286Ensembl.1
Natural variantiVAR_03947869H → N in GTLMNS. 1 PublicationCorresponds to variant dbSNP:rs780502516Ensembl.1
Natural variantiVAR_07593283R → Q in GTLMNS. 1 PublicationCorresponds to variant dbSNP:rs768527231Ensembl.1
Natural variantiVAR_07593383R → W in GTLMNS. 1 PublicationCorresponds to variant dbSNP:rs201255508EnsemblClinVar.1
Natural variantiVAR_03947990H → Y in GTLMNS. 1 Publication1
Natural variantiVAR_075934121E → D in GTLMNS; 27% residual Na(+) uptake activity; increased MAPK1/3 (ERK1/2) phosphorylation in response to IL18; no effect on localization at the plasma membrane. 2 PublicationsCorresponds to variant dbSNP:rs146632606EnsemblClinVar.1
Natural variantiVAR_075935135R → C in GTLMNS. 1 PublicationCorresponds to variant dbSNP:rs749742102Ensembl.1
Natural variantiVAR_075936145R → C in GTLMNS. 1 PublicationCorresponds to variant dbSNP:rs148945966Ensembl.1
Natural variantiVAR_039480145R → H in GTLMNS. 1 PublicationCorresponds to variant dbSNP:rs374324018Ensembl.1
Natural variantiVAR_075937150I → M in GTLMNS. 1 PublicationCorresponds to variant dbSNP:rs143714318EnsemblClinVar.1
Natural variantiVAR_039481153V → M in GTLMNS. 2 PublicationsCorresponds to variant dbSNP:rs779074538EnsemblClinVar.1
Natural variantiVAR_039482154I → F in GTLMNS. 1 PublicationCorresponds to variant dbSNP:rs748547209EnsemblClinVar.1
Natural variantiVAR_075938157L → P in GTLMNS. 1 PublicationCorresponds to variant dbSNP:rs775047246Ensembl.1
Natural variantiVAR_075939158R → L in GTLMNS. 1 Publication1
Natural variantiVAR_039483158R → Q in GTLMNS. 1 PublicationCorresponds to variant dbSNP:rs1274973729Ensembl.1
Natural variantiVAR_039484163T → M in GTLMNS. 2 PublicationsCorresponds to variant dbSNP:rs267607050EnsemblClinVar.1
Natural variantiVAR_075940166A → V in GTLMNS. 1 PublicationCorresponds to variant dbSNP:rs779683214Ensembl.1
Natural variantiVAR_039485172W → R in GTLMNS. 2 PublicationsCorresponds to variant dbSNP:rs757792232Ensembl.1
Natural variantiVAR_039486178S → L in GTLMNS. 2 PublicationsCorresponds to variant dbSNP:rs772589653Ensembl.1
Natural variantiVAR_039487180T → K in GTLMNS. 1 PublicationCorresponds to variant dbSNP:rs146158333Ensembl.1
Natural variantiVAR_039488186G → D in GTLMNS. 1 PublicationCorresponds to variant dbSNP:rs759426055EnsemblClinVar.1
Natural variantiVAR_075941192I → T in GTLMNS; associated with deletion of N-566. 1 PublicationCorresponds to variant dbSNP:rs1231715433Ensembl.1
Natural variantiVAR_075942194T → I in GTLMNS. 1 Publication1
Natural variantiVAR_039489209R → Q in GTLMNS. 2 PublicationsCorresponds to variant dbSNP:rs758035631Ensembl.1
Natural variantiVAR_007113209R → W in GTLMNS. 4 PublicationsCorresponds to variant dbSNP:rs28936388EnsemblClinVar.1
Natural variantiVAR_039490215L → P in GTLMNS. 1 PublicationCorresponds to variant dbSNP:rs780594361Ensembl.1
Natural variantiVAR_039491226A → T in GTLMNS. 1 PublicationCorresponds to variant dbSNP:rs774753202Ensembl.1
Natural variantiVAR_039492230G → D in GTLMNS. 1 PublicationCorresponds to variant dbSNP:rs375990084Ensembl.1
Natural variantiVAR_075943235T → R in GTLMNS. 1 Publication1
Natural variantiVAR_075944259D → N in GTLMNS. 1 PublicationCorresponds to variant dbSNP:rs780461639Ensembl.1
Natural variantiVAR_039493261R → H in GTLMNS. 1 PublicationCorresponds to variant dbSNP:rs914588619Ensembl.1
Natural variantiVAR_075945272L → P in GTLMNS. 1 PublicationCorresponds to variant dbSNP:rs568513106EnsemblClinVar.1
Natural variantiVAR_039495283S → Y in GTLMNS. 1 Publication1
Natural variantiVAR_039496284K → R in GTLMNS. 1 Publication1
Natural variantiVAR_075946304T → M in GTLMNS. 1 PublicationCorresponds to variant dbSNP:rs755069436Ensembl.1
Natural variantiVAR_039497304T → P in GTLMNS. 2 PublicationsCorresponds to variant dbSNP:rs753840283Ensembl.1
Natural variantiVAR_039498313A → V in GTLMNS. 2 PublicationsCorresponds to variant dbSNP:rs140551719EnsemblClinVar.1
Natural variantiVAR_039499316G → V in GTLMNS. 1 PublicationCorresponds to variant dbSNP:rs748920885Ensembl.1
Natural variantiVAR_039500321R → W in GTLMNS. 2 PublicationsCorresponds to variant dbSNP:rs150046661Ensembl.1
Natural variantiVAR_039501334R → W in GTLMNS. 2 PublicationsCorresponds to variant dbSNP:rs770702194Ensembl.1
Natural variantiVAR_039502342G → A in GTLMNS. 1 Publication1
Natural variantiVAR_007114349P → L in GTLMNS. 2 PublicationsCorresponds to variant dbSNP:rs121909383EnsemblClinVar.1
Natural variantiVAR_075947374G → E in GTLMNS. 1 Publication1
Natural variantiVAR_039503374G → V in GTLMNS. 1 PublicationCorresponds to variant dbSNP:rs773669504Ensembl.1
Natural variantiVAR_075948382T → M in GTLMNS. 1 PublicationCorresponds to variant dbSNP:rs187885782Ensembl.1
Natural variantiVAR_075949392T → I in GTLMNS; complete loss Na(+) uptake activity; partial loss of localization at the plasma membrane. 1 PublicationCorresponds to variant dbSNP:rs748575829Ensembl.1
Natural variantiVAR_039504399R → C in GTLMNS. 2 PublicationsCorresponds to variant dbSNP:rs775931992EnsemblClinVar.1
Natural variantiVAR_007115421C → R in GTLMNS. 1 PublicationCorresponds to variant dbSNP:rs28936387EnsemblClinVar.1
Natural variantiVAR_075950433 – 436QHSC → L in GTLMNS. 1 Publication4
Natural variantiVAR_039505439G → S in GTLMNS; does not affect MAPK1/3 (ERK1/2) phosphorylation in response to IL18. 4 PublicationsCorresponds to variant dbSNP:rs759377924EnsemblClinVar.1
Natural variantiVAR_075951442N → S in GTLMNS; 68% residual Na(+) uptake activity; partial loss of localization at the plasma membrane. 1 Publication1
Natural variantiVAR_039506463G → E in GTLMNS. 1 Publication1
Natural variantiVAR_075952463G → R in GTLMNS. 1 PublicationCorresponds to variant dbSNP:rs374163823EnsemblClinVar.1
Natural variantiVAR_039507464A → T in GTLMNS. 2 PublicationsCorresponds to variant dbSNP:rs201945662Ensembl.1
Natural variantiVAR_075953475S → C in GTLMNS; 40% residual Na(+) uptake activity; increased MAPK1/3 (ERK1/2) phosphorylation in response to IL18; no effect on localization at the plasma membrane. 2 PublicationsCorresponds to variant dbSNP:rs373017321Ensembl.1
Natural variantiVAR_039508478K → E in GTLMNS. 1 Publication1
Natural variantiVAR_007116486D → N in GTLMNS. 2 PublicationsCorresponds to variant dbSNP:rs753523115Ensembl.1
Natural variantiVAR_075954489Y → H in GTLMNS; 48% residual Na(+) uptake activity; no effect on localization at the plasma membrane. 1 Publication1
Natural variantiVAR_007117496G → C in GTLMNS. 2 PublicationsCorresponds to variant dbSNP:rs777612082Ensembl.1
Natural variantiVAR_075955507R → C in GTLMNS. 1 PublicationCorresponds to variant dbSNP:rs369510226Ensembl.1
Natural variantiVAR_075956523A → T in GTLMNS. 1 PublicationCorresponds to variant dbSNP:rs781137708Ensembl.1
Natural variantiVAR_075957534N → S in GTLMNS. 1 PublicationCorresponds to variant dbSNP:rs780433336Ensembl.1
Natural variantiVAR_075958536F → L in GTLMNS. 1 PublicationCorresponds to variant dbSNP:rs748650798Ensembl.1
Natural variantiVAR_039509542L → P in GTLMNS. 1 PublicationCorresponds to variant dbSNP:rs574357286Ensembl.1
Natural variantiVAR_075959546S → G in GTLMNS. 1 Publication1
Natural variantiVAR_039510555S → L in GTLMNS. 2 PublicationsCorresponds to variant dbSNP:rs148038173Ensembl.1
Natural variantiVAR_039511560P → H in GTLMNS. 1 Publication1
Natural variantiVAR_075960560P → R in GTLMNS. 1 Publication1
Natural variantiVAR_007118561Missing in GTLMNS. 1 Publication1
Natural variantiVAR_075961566Missing in GTLMNS; associated with T-192. 1 Publication1
Natural variantiVAR_039512569A → E in GTLMNS. 1 Publication1
Natural variantiVAR_039513569A → V in GTLMNS. 1 PublicationCorresponds to variant dbSNP:rs79351185EnsemblClinVar.1
Natural variantiVAR_039514578V → M in GTLMNS. 1 PublicationCorresponds to variant dbSNP:rs139329616EnsemblClinVar.1
Natural variantiVAR_007119588A → V in GTLMNS. 2 PublicationsCorresponds to variant dbSNP:rs121909382EnsemblClinVar.1
Natural variantiVAR_039515613G → S in GTLMNS. 1 PublicationCorresponds to variant dbSNP:rs1222807128Ensembl.1
Natural variantiVAR_039516615S → L in GTLMNS. 3 PublicationsCorresponds to variant dbSNP:rs779160677EnsemblClinVar.1
Natural variantiVAR_039517615S → W in GTLMNS. 1 PublicationCorresponds to variant dbSNP:rs779160677EnsemblClinVar.1
Natural variantiVAR_039518623L → P in GTLMNS. 2 PublicationsCorresponds to variant dbSNP:rs121909385EnsemblClinVar.1
Natural variantiVAR_007120630G → V in GTLMNS. 1 PublicationCorresponds to variant dbSNP:rs121909384EnsemblClinVar.1
Natural variantiVAR_039519642R → C in GTLMNS. 3 PublicationsCorresponds to variant dbSNP:rs200697179EnsemblClinVar.1
Natural variantiVAR_039520642R → G in GTLMNS. 3 PublicationsCorresponds to variant dbSNP:rs200697179EnsemblClinVar.1
Natural variantiVAR_039521642R → H in GTLMNS. 3 PublicationsCorresponds to variant dbSNP:rs147901432EnsemblClinVar.1
Natural variantiVAR_039522643P → L in GTLMNS. 3 PublicationsCorresponds to variant dbSNP:rs140012781EnsemblClinVar.1
Natural variantiVAR_075962647V → M in GTLMNS. 1 Publication1
Natural variantiVAR_039523649T → R in GTLMNS. 1 Publication1
Natural variantiVAR_039524655R → C in GTLMNS. 1 PublicationCorresponds to variant dbSNP:rs747249619Ensembl.1
Natural variantiVAR_007121655R → H in GTLMNS. 2 PublicationsCorresponds to variant dbSNP:rs121909380EnsemblClinVar.1
Natural variantiVAR_007122655R → L in GTLMNS. 1 PublicationCorresponds to variant dbSNP:rs121909380EnsemblClinVar.1
Natural variantiVAR_039525672M → I in GTLMNS. 1 Publication1
Natural variantiVAR_039526677V → L in GTLMNS. 1 Publication1
Natural variantiVAR_039527677V → M in GTLMNS. 1 PublicationCorresponds to variant dbSNP:rs771326058Ensembl.1
Natural variantiVAR_075963713I → IKAFYSDVI in GTLMNS. 1 Publication1
Natural variantiVAR_039528729G → V in GTLMNS. 2 PublicationsCorresponds to variant dbSNP:rs373901523Ensembl.1
Natural variantiVAR_039529731G → R in GTLMNS. 2 PublicationsCorresponds to variant dbSNP:rs752101663EnsemblClinVar.1
Natural variantiVAR_075964735P → R in GTLMNS. 1 PublicationCorresponds to variant dbSNP:rs757761069Ensembl.1
Natural variantiVAR_039530738L → R in GTLMNS. 1 Publication1
Natural variantiVAR_007124741G → R in GTLMNS. 4 PublicationsCorresponds to variant dbSNP:rs138977195EnsemblClinVar.1
Natural variantiVAR_075965751P → L in GTLMNS; 54% residual Na(+) uptake activity; no effect on localization at the plasma membrane. 1 PublicationCorresponds to variant dbSNP:rs368068353Ensembl.1
Natural variantiVAR_075966824S → T in GTLMNS. 1 PublicationCorresponds to variant dbSNP:rs146845953Ensembl.1
Natural variantiVAR_075967839D → N in GTLMNS. 1 Publication1
Natural variantiVAR_075968849L → F in GTLMNS. 1 Publication1
Natural variantiVAR_039531849L → H in GTLMNS. 3 PublicationsCorresponds to variant dbSNP:rs185927948Ensembl.1
Natural variantiVAR_007125850L → P in GTLMNS. 3 PublicationsCorresponds to variant dbSNP:rs121909379Ensembl.1
Natural variantiVAR_039532852R → C in GTLMNS. 3 PublicationsCorresponds to variant dbSNP:rs373899077Ensembl.1
Natural variantiVAR_039533852R → H in GTLMNS. 1 PublicationCorresponds to variant dbSNP:rs751929135Ensembl.1
Natural variantiVAR_039534852R → S in GTLMNS. 1 Publication1
Natural variantiVAR_075969862R → C in GTLMNS. 1 PublicationCorresponds to variant dbSNP:rs754505583Ensembl.1
Natural variantiVAR_039535867G → S in GTLMNS. 1 PublicationCorresponds to variant dbSNP:rs370301695Ensembl.1
Natural variantiVAR_039536871R → H in GTLMNS. 1 Publication1
Natural variantiVAR_075970872M → T in GTLMNS. 1 PublicationCorresponds to variant dbSNP:rs752124879Ensembl.1
Natural variantiVAR_075971887R → Q in GTLMNS. 1 PublicationCorresponds to variant dbSNP:rs369360334Ensembl.1
Natural variantiVAR_075972934R → W in GTLMNS. 1 PublicationCorresponds to variant dbSNP:rs201721269Ensembl.1
Natural variantiVAR_075973935R → W in GTLMNS; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs56125220Ensembl.1
Natural variantiVAR_007126955R → Q in GTLMNS. 2 PublicationsCorresponds to variant dbSNP:rs202114767Ensembl.1
Natural variantiVAR_039539958R → G in GTLMNS. 2 PublicationsCorresponds to variant dbSNP:rs773428143Ensembl.1
Natural variantiVAR_075974980G → R in GTLMNS. 1 PublicationCorresponds to variant dbSNP:rs34803727Ensembl.1
Natural variantiVAR_039540985C → Y in GTLMNS. 2 PublicationsCorresponds to variant dbSNP:rs199849117Ensembl.1
Natural variantiVAR_0759751009R → Q in GTLMNS. 1 PublicationCorresponds to variant dbSNP:rs370175770Ensembl.1
Natural variantiVAR_0759761021Q → R in GTLMNS; 58% residual Na(+) uptake activity; decreased MAPK1/3 (ERK1/2) phosphorylation in response to IL18; partial loss of localization at the plasma membrane. 1 PublicationCorresponds to variant dbSNP:rs762026283Ensembl.1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNET

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DisGeNETi
6559

MalaCards human disease database

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MalaCardsi
SLC12A3
MIMi263800 phenotype

Open Targets

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OpenTargetsi
ENSG00000070915

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

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Orphaneti
358 Gitelman syndrome

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA321

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

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ChEMBLi
CHEMBL1876

Drug and drug target database

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DrugBanki
DB00436 Bendroflumethiazide
DB00562 Benzthiazide
DB00880 Chlorothiazide
DB01119 Diazoxide
DB00999 Hydrochlorothiazide
DB00524 Metolazone
DB01324 Polythiazide
DB01325 Quinethazone

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

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BioMutai
SLC12A3

Domain mapping of disease mutations (DMDM)

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DMDMi
313104194

<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 describes the extent of a polypeptide chain in the mature protein following processing.<p><a href='/help/chain' target='_top'>More...</a></p>ChainiPRO_00001780261 – 1021Solute carrier family 12 member 3Add BLAST1021

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘PTM / Processing’ section specifies the position and type of each modified residue excluding <a href="http://www.uniprot.org/manual/lipid">lipids</a>, <a href="http://www.uniprot.org/manual/carbohyd">glycans</a> and <a href="http://www.uniprot.org/manual/crosslnk">protein cross-links</a>.<p><a href='/help/mod_res' target='_top'>More...</a></p>Modified residuei43PhosphoserineBy similarity1
Modified residuei49PhosphoserineBy similarity1
Modified residuei50PhosphothreonineBy similarity1
Modified residuei55PhosphothreonineBy similarity1
Modified residuei60PhosphothreonineBy similarity1
Modified residuei73PhosphoserineBy similarity1
Modified residuei91PhosphoserineCombined sources1
Modified residuei124PhosphothreonineBy similarity1
Modified residuei126PhosphoserineBy similarity1
<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>Glycosylationi406N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi426N-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

Ubiquitinated; ubiquitination is essential for regulation of endocytosis. The BCR(KLHL3) complex was initially identified as a candidate ubiquitin ligase for SLC12A3 (PubMed:22406640). However, it was later shown that it is not the case.1 Publication
Phosphorylated in response to IL18.By similarity

Keywords - PTMi

Glycoprotein, Phosphoprotein, Ubl conjugation

Proteomic databases

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

More...
PaxDbi
P55017

PeptideAtlas

More...
PeptideAtlasi
P55017

PRoteomics IDEntifications database

More...
PRIDEi
P55017

ProteomicsDB human proteome resource

More...
ProteomicsDBi
56759
56760 [P55017-2]
56761 [P55017-3]

PTM databases

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
P55017

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

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PhosphoSitePlusi
P55017

<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

Predominantly expressed in kidney (PubMed:8812482). Not detected in normal aorta, but abundantly expressed in fatty streaks and advanced atherosclerotic lesions (at protein level) (PubMed:26099046).2 Publications

Gene expression databases

Bgee dataBase for Gene Expression Evolution

More...
Bgeei
ENSG00000070915 Expressed in 58 organ(s), highest expression level in adult mammalian kidney

CleanEx database of gene expression profiles

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CleanExi
HS_SLC12A3

ExpressionAtlas, Differential and Baseline Expression

More...
ExpressionAtlasi
P55017 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
P55017 HS

Organism-specific databases

Human Protein Atlas

More...
HPAi
HPA028748

<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

Interacts with KLHL3 (PubMed:22406640). Interacts with IL18R1; this interaction is increased by IL18 treatment (By similarity).By similarity1 Publication

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
112448, 11 interactors

The Eukaryotic Linear Motif resource for Functional Sites in Proteins

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ELMi
P55017

Protein interaction database and analysis system

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IntActi
P55017, 1 interactor

STRING: functional protein association networks

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STRINGi
9606.ENSP00000402152

<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
P55017

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 SLC12A transporter family.Curated

Keywords - Domaini

Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG2083 Eukaryota
COG0531 LUCA

Ensembl GeneTree

More...
GeneTreei
ENSGT00940000155044

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

More...
HOGENOMi
HOG000062855

The HOVERGEN Database of Homologous Vertebrate Genes

More...
HOVERGENi
HBG052851

InParanoid: Eukaryotic Ortholog Groups

More...
InParanoidi
P55017

KEGG Orthology (KO)

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KOi
K14426

Identification of Orthologs from Complete Genome Data

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OMAi
SHEMTDG

Database of Orthologous Groups

More...
OrthoDBi
EOG091G04G2

Database for complete collections of gene phylogenies

More...
PhylomeDBi
P55017

TreeFam database of animal gene trees

More...
TreeFami
TF313191

Family and domain databases

Integrated resource of protein families, domains and functional sites

More...
InterProi
View protein in InterPro
IPR004841 AA-permease/SLC12A_dom
IPR013612 AA_permease_N
IPR018491 SLC12_C
IPR002948 SLC12A3
IPR004842 SLC12A_fam

The PANTHER Classification System

More...
PANTHERi
PTHR11827:SF9 PTHR11827:SF9, 1 hit

Pfam protein domain database

More...
Pfami
View protein in Pfam
PF00324 AA_permease, 1 hit
PF08403 AA_permease_N, 1 hit
PF03522 SLC12, 2 hits

Protein Motif fingerprint database; a protein domain database

More...
PRINTSi
PR01230 NACLTRNSPORT

TIGRFAMs; a protein family database

More...
TIGRFAMsi
TIGR00930 2a30, 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 (3+)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.

This entry describes 3 <p>This subsection of the ‘Sequence’ section lists the alternative protein sequences (isoforms) that can be generated from the same gene by a single or by the combination of up to four biological events (alternative promoter usage, alternative splicing, alternative initiation and ribosomal frameshifting). Additionally, this section gives relevant information on each alternative protein isoform.<p><a href='/help/alternative_products' target='_top'>More...</a></p> isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 3 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All

Isoform 1 (identifier: P55017-1) [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
MAELPTTETP GDATLCSGRF TISTLLSSDE PSPPAAYDSS HPSHLTHSST
60 70 80 90 100
FCMRTFGYNT IDVVPTYEHY ANSTQPGEPR KVRPTLADLH SFLKQEGRHL
110 120 130 140 150
HALAFDSRPS HEMTDGLVEG EAGTSSEKNP EEPVRFGWVK GVMIRCMLNI
160 170 180 190 200
WGVILYLRLP WITAQAGIVL TWIIILLSVT VTSITGLSIS AISTNGKVKS
210 220 230 240 250
GGTYFLISRS LGPELGGSIG LIFAFANAVG VAMHTVGFAE TVRDLLQEYG
260 270 280 290 300
APIVDPINDI RIIAVVSVTV LLAISLAGME WESKAQVLFF LVIMVSFANY
310 320 330 340 350
LVGTLIPPSE DKASKGFFSY RADIFVQNLV PDWRGPDGTF FGMFSIFFPS
360 370 380 390 400
ATGILAGANI SGDLKDPAIA IPKGTLMAIF WTTISYLAIS ATIGSCVVRD
410 420 430 440 450
ASGVLNDTVT PGWGACEGLA CSYGWNFTEC TQQHSCHYGL INYYQTMSMV
460 470 480 490 500
SGFAPLITAG IFGATLSSAL ACLVSAAKVF QCLCEDQLYP LIGFFGKGYG
510 520 530 540 550
KNKEPVRGYL LAYAIAVAFI IIAELNTIAP IISNFFLCSY ALINFSCFHA
560 570 580 590 600
SITNSPGWRP SFQYYNKWAA LFGAIISVVI MFLLTWWAAL IAIGVVLFLL
610 620 630 640 650
LYVIYKKPEV NWGSSVQAGS YNLALSYSVG LNEVEDHIKN YRPQCLVLTG
660 670 680 690 700
PPNFRPALVD FVGTFTRNLS LMICGHVLIG PHKQRMPELQ LIANGHTKWL
710 720 730 740 750
NKRKIKAFYS DVIAEDLRRG VQILMQAAGL GRMKPNILVV GFKKNWQSAH
760 770 780 790 800
PATVEDYIGI LHDAFDFNYG VCVMRMREGL NVSKMMQAHI NPVFDPAEDG
810 820 830 840 850
KEASARVDPK ALVKEEQATT IFQSEQGKKT IDIYWLFDDG GLTLLIPYLL
860 870 880 890 900
GRKRRWSKCK IRVFVGGQIN RMDQERKAII SLLSKFRLGF HEVHILPDIN
910 920 930 940 950
QNPRAEHTKR FEDMIAPFRL NDGFKDEATV NEMRRDCPWK ISDEEITKNR
960 970 980 990 1000
VKSLRQVRLN EIVLDYSRDA ALIVITLPIG RKGKCPSSLY MAWLETLSQD
1010 1020
LRPPVILIRG NQENVLTFYC Q
Length:1,021
Mass (Da):113,139
Last modified:November 30, 2010 - 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:i629C5A42F3234B71
GO
Isoform 2 (identifier: P55017-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     807-807: V → GARPSVSGAL

Show »
Length:1,030
Mass (Da):113,936
Checksum:i5CB36A5FF81494A3
GO
Isoform 3 (identifier: P55017-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     95-95: Missing.
     807-807: V → GARPSVSGAL

Note: No experimental confirmation available.
Show »
Length:1,029
Mass (Da):113,808
Checksum:iDD190B2391AE0525
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
J3QSS1J3QSS1_HUMAN
Solute carrier family 12 member 3
SLC12A3
1,020Annotation 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>

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 conflicti459 – 460AG → VV in CAA62613 (PubMed:8812482).Curated2
Sequence conflicti539S → P in AK315298 (PubMed:14702039).Curated1
Sequence conflicti766D → E in AAC50355 (PubMed:8528245).Curated1
Sequence conflicti778Missing in AK315298 (PubMed:14702039).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_03947560T → M in GTLMNS. 2 PublicationsCorresponds to variant dbSNP:rs371443644EnsemblClinVar.1
Natural variantiVAR_07593162D → H in GTLMNS. 1 PublicationCorresponds to variant dbSNP:rs757490496Ensembl.1
Natural variantiVAR_03947662D → N in GTLMNS. 1 Publication1
Natural variantiVAR_03947768E → K in GTLMNS. 1 PublicationCorresponds to variant dbSNP:rs763210286Ensembl.1
Natural variantiVAR_03947869H → N in GTLMNS. 1 PublicationCorresponds to variant dbSNP:rs780502516Ensembl.1
Natural variantiVAR_07593283R → Q in GTLMNS. 1 PublicationCorresponds to variant dbSNP:rs768527231Ensembl.1
Natural variantiVAR_07593383R → W in GTLMNS. 1 PublicationCorresponds to variant dbSNP:rs201255508EnsemblClinVar.1
Natural variantiVAR_03947990H → Y in GTLMNS. 1 Publication1
Natural variantiVAR_075934121E → D in GTLMNS; 27% residual Na(+) uptake activity; increased MAPK1/3 (ERK1/2) phosphorylation in response to IL18; no effect on localization at the plasma membrane. 2 PublicationsCorresponds to variant dbSNP:rs146632606EnsemblClinVar.1
Natural variantiVAR_075935135R → C in GTLMNS. 1 PublicationCorresponds to variant dbSNP:rs749742102Ensembl.1
Natural variantiVAR_075936145R → C in GTLMNS. 1 PublicationCorresponds to variant dbSNP:rs148945966Ensembl.1
Natural variantiVAR_039480145R → H in GTLMNS. 1 PublicationCorresponds to variant dbSNP:rs374324018Ensembl.1
Natural variantiVAR_075937150I → M in GTLMNS. 1 PublicationCorresponds to variant dbSNP:rs143714318EnsemblClinVar.1
Natural variantiVAR_039481153V → M in GTLMNS. 2 PublicationsCorresponds to variant dbSNP:rs779074538EnsemblClinVar.1
Natural variantiVAR_039482154I → F in GTLMNS. 1 PublicationCorresponds to variant dbSNP:rs748547209EnsemblClinVar.1
Natural variantiVAR_075938157L → P in GTLMNS. 1 PublicationCorresponds to variant dbSNP:rs775047246Ensembl.1
Natural variantiVAR_075939158R → L in GTLMNS. 1 Publication1
Natural variantiVAR_039483158R → Q in GTLMNS. 1 PublicationCorresponds to variant dbSNP:rs1274973729Ensembl.1
Natural variantiVAR_039484163T → M in GTLMNS. 2 PublicationsCorresponds to variant dbSNP:rs267607050EnsemblClinVar.1
Natural variantiVAR_075940166A → V in GTLMNS. 1 PublicationCorresponds to variant dbSNP:rs779683214Ensembl.1
Natural variantiVAR_039485172W → R in GTLMNS. 2 PublicationsCorresponds to variant dbSNP:rs757792232Ensembl.1
Natural variantiVAR_039486178S → L in GTLMNS. 2 PublicationsCorresponds to variant dbSNP:rs772589653Ensembl.1
Natural variantiVAR_039487180T → K in GTLMNS. 1 PublicationCorresponds to variant dbSNP:rs146158333Ensembl.1
Natural variantiVAR_039488186G → D in GTLMNS. 1 PublicationCorresponds to variant dbSNP:rs759426055EnsemblClinVar.1
Natural variantiVAR_075941192I → T in GTLMNS; associated with deletion of N-566. 1 PublicationCorresponds to variant dbSNP:rs1231715433Ensembl.1
Natural variantiVAR_075942194T → I in GTLMNS. 1 Publication1
Natural variantiVAR_039489209R → Q in GTLMNS. 2 PublicationsCorresponds to variant dbSNP:rs758035631Ensembl.1
Natural variantiVAR_007113209R → W in GTLMNS. 4 PublicationsCorresponds to variant dbSNP:rs28936388EnsemblClinVar.1
Natural variantiVAR_039490215L → P in GTLMNS. 1 PublicationCorresponds to variant dbSNP:rs780594361Ensembl.1
Natural variantiVAR_039491226A → T in GTLMNS. 1 PublicationCorresponds to variant dbSNP:rs774753202Ensembl.1
Natural variantiVAR_039492230G → D in GTLMNS. 1 PublicationCorresponds to variant dbSNP:rs375990084Ensembl.1
Natural variantiVAR_075943235T → R in GTLMNS. 1 Publication1
Natural variantiVAR_075944259D → N in GTLMNS. 1 PublicationCorresponds to variant dbSNP:rs780461639Ensembl.1
Natural variantiVAR_039493261R → H in GTLMNS. 1 PublicationCorresponds to variant dbSNP:rs914588619Ensembl.1
Natural variantiVAR_039494264A → G5 PublicationsCorresponds to variant dbSNP:rs1529927Ensembl.1
Natural variantiVAR_075945272L → P in GTLMNS. 1 PublicationCorresponds to variant dbSNP:rs568513106EnsemblClinVar.1
Natural variantiVAR_039495283S → Y in GTLMNS. 1 Publication1
Natural variantiVAR_039496284K → R in GTLMNS. 1 Publication1
Natural variantiVAR_075946304T → M in GTLMNS. 1 PublicationCorresponds to variant dbSNP:rs755069436Ensembl.1
Natural variantiVAR_039497304T → P in GTLMNS. 2 PublicationsCorresponds to variant dbSNP:rs753840283Ensembl.1
Natural variantiVAR_039498313A → V in GTLMNS. 2 PublicationsCorresponds to variant dbSNP:rs140551719EnsemblClinVar.1
Natural variantiVAR_039499316G → V in GTLMNS. 1 PublicationCorresponds to variant dbSNP:rs748920885Ensembl.1
Natural variantiVAR_039500321R → W in GTLMNS. 2 PublicationsCorresponds to variant dbSNP:rs150046661Ensembl.1
Natural variantiVAR_039501334R → W in GTLMNS. 2 PublicationsCorresponds to variant dbSNP:rs770702194Ensembl.1
Natural variantiVAR_039502342G → A in GTLMNS. 1 Publication1
Natural variantiVAR_007114349P → L in GTLMNS. 2 PublicationsCorresponds to variant dbSNP:rs121909383EnsemblClinVar.1
Natural variantiVAR_075947374G → E in GTLMNS. 1 Publication1
Natural variantiVAR_039503374G → V in GTLMNS. 1 PublicationCorresponds to variant dbSNP:rs773669504Ensembl.1
Natural variantiVAR_075948382T → M in GTLMNS. 1 PublicationCorresponds to variant dbSNP:rs187885782Ensembl.1
Natural variantiVAR_075949392T → I in GTLMNS; complete loss Na(+) uptake activity; partial loss of localization at the plasma membrane. 1 PublicationCorresponds to variant dbSNP:rs748575829Ensembl.1
Natural variantiVAR_039504399R → C in GTLMNS. 2 Publications