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Entry version 171 (13 Feb 2019)
Sequence version 1 (01 May 2000)
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Protein

Sodium channel protein type 8 subunit alpha

Gene

SCN8A

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

Mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which Na+ ions may pass in accordance with their electrochemical gradient. In macrophages and melanoma cells, isoform 5 may participate in the control of podosome and invadopodia formation.1 Publication

Regions

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Function’ section describes a region in the protein which binds nucleotide phosphates. It always involves more than one amino acid and includes all residues involved in nucleotide-binding.<p><a href='/help/np_bind' target='_top'>More...</a></p>Nucleotide bindingi893 – 900ATPSequence analysis8

<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

  • membrane depolarization during action potential Source: GO_Central
  • myelination Source: BHF-UCL
  • nervous system development Source: ProtInc
  • neuronal action potential Source: GO_Central
  • peripheral nervous system development Source: BHF-UCL
  • regulation of ion transmembrane transport Source: UniProtKB-KW
  • sodium ion transmembrane transport Source: GO_Central
  • sodium ion transport Source: UniProtKB

<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 functionIon channel, Sodium channel, Voltage-gated channel
Biological processIon transport, Sodium transport, Transport
LigandATP-binding, Nucleotide-binding, Sodium

Enzyme and pathway databases

Reactome - a knowledgebase of biological pathways and processes

More...
Reactomei
R-HSA-445095 Interaction between L1 and Ankyrins
R-HSA-5576892 Phase 0 - rapid depolarisation

SIGNOR Signaling Network Open Resource

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SIGNORi
Q9UQD0

Protein family/group databases

Transport Classification Database

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TCDBi
1.A.1.10.8 the voltage-gated ion channel (vic) superfamily

<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:
Sodium channel protein type 8 subunit alpha
Alternative name(s):
Sodium channel protein type VIII subunit alpha
Voltage-gated sodium channel subunit alpha Nav1.6
<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:SCN8A
Synonyms:MED
<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)Imported
<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 12

Organism-specific databases

Eukaryotic Pathogen Database Resources

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EuPathDBi
HostDB:ENSG00000196876.13

Human Gene Nomenclature Database

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HGNCi
HGNC:10596 SCN8A

Online Mendelian Inheritance in Man (OMIM)

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MIMi
600702 gene

neXtProt; the human protein knowledge platform

More...
neXtProti
NX_Q9UQD0

<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 – 132CytoplasmicCuratedAdd BLAST132
<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>Transmembranei133 – 151Helical; Name=S1 of repeat IBy similarityAdd BLAST19
Topological domaini152 – 158ExtracellularCurated7
Transmembranei159 – 179Helical; Name=S2 of repeat IBy similarityAdd BLAST21
Topological domaini180 – 193CytoplasmicCuratedAdd BLAST14
Transmembranei194 – 211Helical; Name=S3 of repeat IBy similarityAdd BLAST18
Topological domaini212 – 217ExtracellularCurated6
Transmembranei218 – 234Helical; Name=S4 of repeat IBy similarityAdd BLAST17
Topological domaini235 – 253CytoplasmicCuratedAdd BLAST19
Transmembranei254 – 273Helical; Name=S5 of repeat IBy similarityAdd BLAST20
Topological domaini274 – 355ExtracellularCuratedAdd BLAST82
<p>This subsection of the <a href="http://www.uniprot.org/help/subcellular_location_section">'Subcellular location'</a> section describes the extent of a region that is buried within a membrane, but does not cross it.<p><a href='/help/intramem' target='_top'>More...</a></p>Intramembranei356 – 380Pore-formingBy similarityAdd BLAST25
Topological domaini381 – 387ExtracellularCurated7
Transmembranei388 – 408Helical; Name=S6 of repeat IBy similarityAdd BLAST21
Topological domaini409 – 753CytoplasmicCuratedAdd BLAST345
Transmembranei754 – 772Helical; Name=S1 of repeat IIBy similarityAdd BLAST19
Topological domaini773 – 783ExtracellularCuratedAdd BLAST11
Transmembranei784 – 803Helical; Name=S2 of repeat IIBy similarityAdd BLAST20
Topological domaini804 – 817CytoplasmicCuratedAdd BLAST14
Transmembranei818 – 837Helical; Name=S3 of repeat IIBy similarityAdd BLAST20
Topological domaini838 – 839ExtracellularCurated2
Transmembranei840 – 857Helical; Name=S4 of repeat IIBy similarityAdd BLAST18
Topological domaini858 – 873CytoplasmicCuratedAdd BLAST16
Transmembranei874 – 892Helical; Name=S5 of repeat IIBy similarityAdd BLAST19
Topological domaini893 – 921ExtracellularCuratedAdd BLAST29
Intramembranei922 – 942Pore-formingBy similarityAdd BLAST21
Topological domaini943 – 955ExtracellularCuratedAdd BLAST13
Transmembranei956 – 976Helical; Name=S6 of repeat IIBy similarityAdd BLAST21
Topological domaini977 – 1199CytoplasmicCuratedAdd BLAST223
Transmembranei1200 – 1217Helical; Name=S1 of repeat IIIBy similarityAdd BLAST18
Topological domaini1218 – 1230ExtracellularCuratedAdd BLAST13
Transmembranei1231 – 1249Helical; Name=S2 of repeat IIIBy similarityAdd BLAST19
Topological domaini1250 – 1263CytoplasmicCuratedAdd BLAST14
Transmembranei1264 – 1282Helical; Name=S3 of repeat IIIBy similarityAdd BLAST19
Topological domaini1283 – 1290ExtracellularCurated8
Transmembranei1291 – 1309Helical; Name=S4 of repeat IIIBy similarityAdd BLAST19
Topological domaini1310 – 1326CytoplasmicCuratedAdd BLAST17
Transmembranei1327 – 1346Helical; Name=S5 of repeat IIIBy similarityAdd BLAST20
Topological domaini1347 – 1399ExtracellularCuratedAdd BLAST53
Intramembranei1400 – 1421Pore-formingBy similarityAdd BLAST22
Topological domaini1422 – 1438ExtracellularCuratedAdd BLAST17
Transmembranei1439 – 1460Helical; Name=S6 of repeat IIIBy similarityAdd BLAST22
Topological domaini1461 – 1523CytoplasmicCuratedAdd BLAST63
Transmembranei1524 – 1541Helical; Name=S1 of repeat IVBy similarityAdd BLAST18
Topological domaini1542 – 1552ExtracellularCuratedAdd BLAST11
Transmembranei1553 – 1571Helical; Name=S2 of repeat IVBy similarityAdd BLAST19
Topological domaini1572 – 1583CytoplasmicCuratedAdd BLAST12
Transmembranei1584 – 1601Helical; Name=S3 of repeat IVBy similarityAdd BLAST18
Topological domaini1602 – 1614ExtracellularCuratedAdd BLAST13
Transmembranei1615 – 1631Helical; Name=S4 of repeat IVBy similarityAdd BLAST17
Topological domaini1632 – 1650CytoplasmicCuratedAdd BLAST19
Transmembranei1651 – 1668Helical; Name=S5 of repeat IVBy similarityAdd BLAST18
Topological domaini1669 – 1690ExtracellularCuratedAdd BLAST22
Intramembranei1691 – 1713Pore-formingBy similarityAdd BLAST23
Topological domaini1714 – 1742ExtracellularCuratedAdd BLAST29
Transmembranei1743 – 1765Helical; Name=S6 of repeat IVBy similarityAdd BLAST23
Topological domaini1766 – 1980CytoplasmicCuratedAdd BLAST215

Keywords - Cellular componenti

Cell membrane, Cytoplasmic vesicle, 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

Cognitive impairment with or without cerebellar ataxia (CIAT)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA disorder characterized by markedly delayed cognitive and motor development, attention deficit disorder, and cerebellar ataxia. Features include bilateral esophoria, strabismatic amblyopia, unsustained gaze evoked nystagmus on horizontal gaze, ataxic gait, dysmetria in the upper limbs and dysarthria, with normal strength, tone, and reflexes.
See also OMIM:614306
Epileptic encephalopathy, early infantile, 13 (EIEE13)15 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of epilepsy characterized by frequent tonic seizures or spasms beginning in infancy with a specific EEG finding of suppression-burst patterns, characterized by high-voltage bursts alternating with almost flat suppression phases. Patients may progress to West syndrome, which is characterized by tonic spasms with clustering, arrest of psychomotor development, and hypsarrhythmia on EEG. EIEE13 is a severe form consisting of early-onset seizures, features of autism, intellectual disability, ataxia, and sudden unexplained death in epilepsy.
See also OMIM:614558
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_07659858D → N in EIEE13; unknown pathological significance; no effect on channel activity. 1 Publication1
Natural variantiVAR_078752210F → L in EIEE13. 1 Publication1
Natural variantiVAR_076599215N → R in EIEE13; unknown pathological significance; requires 2 nucleotide substitutions. 1 Publication1
Natural variantiVAR_071674216V → D in EIEE13. 1 PublicationCorresponds to variant dbSNP:rs879255696EnsemblClinVar.1
Natural variantiVAR_072182223R → G in EIEE13; loss of function mutation; reduces channel activity. 1 PublicationCorresponds to variant dbSNP:rs672601319EnsemblClinVar.1
Natural variantiVAR_079722232S → P in EIEE13. 1 Publication1
Natural variantiVAR_076600260F → S in EIEE13; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs879255697EnsemblClinVar.1
Natural variantiVAR_078202307N → S in EIEE13; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1057519557Ensembl.1
Natural variantiVAR_076601407L → F in EIEE13; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs879255698EnsemblClinVar.1
Natural variantiVAR_078753408A → T in EIEE13; unknown pathological significance. 1 Publication1
Natural variantiVAR_076602410V → L in EIEE13; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs879255699EnsemblClinVar.1
Natural variantiVAR_076603479E → V in EIEE13; unknown pathological significance. 1 Publication1
Natural variantiVAR_078612662R → C in EIEE13; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs76222829EnsemblClinVar.1
Natural variantiVAR_072183767T → I in EIEE13; gain-of-function mutation; increases channel activity. 1 PublicationCorresponds to variant dbSNP:rs797045013EnsemblClinVar.1
Natural variantiVAR_071675846F → S in EIEE13. 1 PublicationCorresponds to variant dbSNP:rs879255700EnsemblClinVar.1
Natural variantiVAR_079723850R → E in EIEE13; requires 2 nucleotide substitutions. 1 Publication1
Natural variantiVAR_076604850R → Q in EIEE13; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs587780586EnsemblClinVar.1
Natural variantiVAR_076605890A → T in EIEE13. 2 PublicationsCorresponds to variant dbSNP:rs879255702EnsemblClinVar.1
Natural variantiVAR_079724891V → M in EIEE13. 1 Publication1
Natural variantiVAR_076606960V → D in EIEE13; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs879255703EnsemblClinVar.1
Natural variantiVAR_078203978S → G in EIEE13. 1 PublicationCorresponds to variant dbSNP:rs1057519540Ensembl.1
Natural variantiVAR_076607984N → K in EIEE13; gain-of-function mutation; increased channel activity. 1 PublicationCorresponds to variant dbSNP:rs876657399EnsemblClinVar.1
Natural variantiVAR_0786131279L → V in EIEE13. 1 Publication1
Natural variantiVAR_0787541323A → S in EIEE13; unknown pathological significance. 1 Publication1
Natural variantiVAR_0716761327I → V in EIEE13. 2 PublicationsCorresponds to variant dbSNP:rs879255704EnsemblClinVar.1
Natural variantiVAR_0766081331L → V in EIEE13; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs397514738EnsemblClinVar.1
Natural variantiVAR_0766091451G → S in EIEE13; loss of channel activity. 1 PublicationCorresponds to variant dbSNP:rs863223345EnsemblClinVar.1
Natural variantiVAR_0716771466N → K in EIEE13. 1 PublicationCorresponds to variant dbSNP:rs587777722EnsemblClinVar.1
Natural variantiVAR_0716781466N → T in EIEE13. 1 PublicationCorresponds to variant dbSNP:rs587777723EnsemblClinVar.1
Natural variantiVAR_0782041475G → R in EIEE13. 2 PublicationsCorresponds to variant dbSNP:rs796053216EnsemblClinVar.1
Natural variantiVAR_0766101479I → V in EIEE13; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs796053217EnsemblClinVar.1
Natural variantiVAR_0766111592V → L in EIEE13; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs587780454EnsemblClinVar.1
Natural variantiVAR_0766121596S → C in EIEE13; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs879255705EnsemblClinVar.1
Natural variantiVAR_0797251598V → A in EIEE13. 1 Publication1
Natural variantiVAR_0766131605I → R in EIEE13; unknown pathological significance. 1 Publication1
Natural variantiVAR_0716791617R → Q in EIEE13; gain-of-function mutation; increased channel activity; impaired channel inactivation. 4 PublicationsCorresponds to variant dbSNP:rs587777721EnsemblClinVar.1
Natural variantiVAR_0716801650A → T in EIEE13. 3 PublicationsCorresponds to variant dbSNP:rs879255709EnsemblClinVar.1
Natural variantiVAR_0787551754F → S in EIEE13; unknown pathological significance. 1 Publication1
Natural variantiVAR_0675391768N → D in EIEE13; gain-of-function mutation; results in increased persistent sodium currents and incomplete channel inactivation. 1 PublicationCorresponds to variant dbSNP:rs202151337EnsemblClinVar.1
Natural variantiVAR_0766141801Q → E in EIEE13; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs879255710EnsemblClinVar.1
Natural variantiVAR_0787561865L → P in EIEE13; unknown pathological significance. 1 Publication1
Natural variantiVAR_0766151872R → L in EIEE13; gain-of-function mutation; increased channel activity; impaired channel inactivation. 1 PublicationCorresponds to variant dbSNP:rs796053229EnsemblClinVar.1
Natural variantiVAR_0766161872R → Q in EIEE13; gain-of-function mutation; increased channel activity; impaired channel inactivation. 2 PublicationsCorresponds to variant dbSNP:rs796053229EnsemblClinVar.1
Natural variantiVAR_0716811872R → W in EIEE13; gain-of-function mutation; increased channel activity; impaired channel inactivation; no effect on interactions with FGF14, SCN1B, GNB2 and GNG3. 5 PublicationsCorresponds to variant dbSNP:rs796053228EnsemblClinVar.1
Natural variantiVAR_0766171877N → S in EIEE13 and BFIS5; also found in a patient with drug-resistant focal epilepsy and mild intellectual disability. 3 PublicationsCorresponds to variant dbSNP:rs587780455EnsemblClinVar.1
Seizures, benign familial infantile, 5 (BFIS5)2 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of benign familial infantile epilepsy, a neurologic disorder characterized by afebrile seizures occurring in clusters during the first year of life, without neurologic sequelae. BFIS5 inheritance is autosomal dominant.
See also OMIM:617080
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0769271483E → K in BFIS5. 1 PublicationCorresponds to variant dbSNP:rs879255652EnsemblClinVar.1
Natural variantiVAR_0766171877N → S in EIEE13 and BFIS5; also found in a patient with drug-resistant focal epilepsy and mild intellectual disability. 3 PublicationsCorresponds to variant dbSNP:rs587780455EnsemblClinVar.1

Keywords - Diseasei

Disease mutation, Epilepsy, Mental retardation

Organism-specific databases

DisGeNET

More...
DisGeNETi
6334

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

More...
GeneReviewsi
SCN8A

MalaCards human disease database

More...
MalaCardsi
SCN8A
MIMi614306 phenotype
614558 phenotype
617080 phenotype

Open Targets

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OpenTargetsi
ENSG00000196876

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

More...
Orphaneti
306 Benign familial infantile epilepsy
31709 Infantile convulsions and choreoathetosis
442835 Undetermined early-onset epileptic encephalopathy

The Pharmacogenetics and Pharmacogenomics Knowledge Base

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PharmGKBi
PA35009

Chemistry databases

ChEMBL database of bioactive drug-like small molecules

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ChEMBLi
CHEMBL5202

Drug and drug target database

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DrugBanki
DB05232 Tetrodotoxin
DB00313 Valproic Acid

IUPHAR/BPS Guide to PHARMACOLOGY

More...
GuidetoPHARMACOLOGYi
583

Polymorphism and mutation databases

BioMuta curated single-nucleotide variation and disease association database

More...
BioMutai
SCN8A

Domain mapping of disease mutations (DMDM)

More...
DMDMi
34098756

<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_00000485001 – 1980Sodium channel protein type 8 subunit alphaAdd BLAST1980

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>Glycosylationi215N-linked (GlcNAc...) asparagineSequence analysis1
<p>This subsection of the PTM / Processing":/help/ptm_processing_section section describes the positions of cysteine residues participating in disulfide bonds.<p><a href='/help/disulfid' target='_top'>More...</a></p>Disulfide bondi281 ↔ 333By similarity
Glycosylationi289N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi295N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi308N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi326N-linked (GlcNAc...) asparagineSequence analysis1
<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 residuei518PhosphoserineBy similarity1
Modified residuei520PhosphoserineBy similarity1
Disulfide bondi904Interchain; with SCN2B or SCN4BBy similarity
Disulfide bondi904Interchain; with the conotoxin GVIIJ (when the channel is not linked to SCN2B or SCN4B; the bond to SCN2B or SCN4B protects the channel from the inhibition by toxin)By similarity
Disulfide bondi944 ↔ 953By similarity
Glycosylationi1358N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1372N-linked (GlcNAc...) asparagineSequence analysis1
Glycosylationi1383N-linked (GlcNAc...) asparagineSequence analysis1
Modified residuei1497Phosphoserine; by PKCBy similarity1

<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

May be ubiquitinated by NEDD4L; which would promote its endocytosis.By similarity
Phosphorylation at Ser-1497 by PKC in a highly conserved cytoplasmic loop slows inactivation of the sodium channel and reduces peak sodium currents.By similarity

Keywords - PTMi

Disulfide bond, Glycoprotein, Phosphoprotein, Ubl conjugation

Proteomic databases

jPOST - Japan Proteome Standard Repository/Database

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jPOSTi
Q9UQD0

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

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PaxDbi
Q9UQD0

PeptideAtlas

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PeptideAtlasi
Q9UQD0

PRoteomics IDEntifications database

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PRIDEi
Q9UQD0

ProteomicsDB human proteome resource

More...
ProteomicsDBi
85544
85545 [Q9UQD0-2]
85546 [Q9UQD0-3]
85547 [Q9UQD0-4]
85548 [Q9UQD0-5]

PTM databases

GlyConnect protein glycosylation platform

More...
GlyConnecti
1754

iPTMnet integrated resource for PTMs in systems biology context

More...
iPTMneti
Q9UQD0

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

More...
PhosphoSitePlusi
Q9UQD0

<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

Isoform 5 is expressed in non-neuronal tissues, such as monocytes/macrophages.1 Publication

Gene expression databases

Bgee dataBase for Gene Expression Evolution

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Bgeei
ENSG00000196876 Expressed in 142 organ(s), highest expression level in frontal cortex

ExpressionAtlas, Differential and Baseline Expression

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ExpressionAtlasi
Q9UQD0 baseline and differential

Genevisible search portal to normalized and curated expression data from Genevestigator

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Genevisiblei
Q9UQD0 HS

<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

The voltage-sensitive sodium channel consists of an ion conducting pore forming alpha-subunit regulated by one or more beta-1 (SCN1B), beta-2 (SCN2B), beta-3 (SCN3B) and/or beta-4 (SCN4B). Beta-1 (SCN1B) and beta-3 (SCN3B) are non-covalently associated with alpha, while beta-2 (SCN2B) and beta-4 (SCN4B) are covalently linked by disulfide bonds. Interacts with NEDD4 and NEDD4L (By similarity). Interacts with FGF13. Interacts with FGF14, GBG3, GBB2 and SCN1B (PubMed:26900580). Interacts with the conotoxin GVIIJ (PubMed:24497506). Interacts with the conotoxin GVIIJ (PubMed:24497506). Interacts with the spider beta/delta-theraphotoxin-Pre1a (PubMed:28428547).By similarity4 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

WithEntry#Exp.IntActNotes
FGF14Q92915-23EBI-2682072,EBI-12836320

Protein-protein interaction databases

The Biological General Repository for Interaction Datasets (BioGrid)

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BioGridi
112238, 2 interactors

Protein interaction database and analysis system

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IntActi
Q9UQD0, 2 interactors

STRING: functional protein association networks

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STRINGi
9606.ENSP00000346534

Chemistry databases

BindingDB database of measured binding affinities

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BindingDBi
Q9UQD0

<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
Q9UQD0

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

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SMRi
Q9UQD0

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

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Family and Domains’ section indicates the positions and types of repeated sequence motifs or repeated domains within the protein.<p><a href='/help/repeat' target='_top'>More...</a></p>Repeati114 – 442ICuratedAdd BLAST329
Repeati735 – 1007IICuratedAdd BLAST273
Repeati1180 – 1495IIICuratedAdd BLAST316
Repeati1504 – 1801IVCuratedAdd BLAST298
<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>Domaini1895 – 1924IQPROSITE-ProRule annotationCuratedAdd BLAST30

<p>This subsection of the ‘Family and domains’ section provides general information on the biological role of a domain. The term ‘domain’ is intended here in its wide acceptation, it may be a structural domain, a transmembrane region or a functional domain. Several domains are described in this subsection.<p><a href='/help/domain_cc' target='_top'>More...</a></p>Domaini

The sequence contains 4 internal repeats, each with 5 hydrophobic segments (S1, S2, S3, S5, S6) and one positively charged segment (S4). Segments S4 are probably the voltage-sensors and are characterized by a series of positively charged amino acids at every third position.Curated

<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

Keywords - Domaini

Repeat, Transmembrane, Transmembrane helix

Phylogenomic databases

evolutionary genealogy of genes: Non-supervised Orthologous Groups

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eggNOGi
KOG2301 Eukaryota
ENOG410XNP6 LUCA

Ensembl GeneTree

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GeneTreei
ENSGT00940000156263

The HOGENOM Database of Homologous Genes from Fully Sequenced Organisms

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HOGENOMi
HOG000231755

The HOVERGEN Database of Homologous Vertebrate Genes

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HOVERGENi
HBG053100

InParanoid: Eukaryotic Ortholog Groups

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InParanoidi
Q9UQD0

KEGG Orthology (KO)

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KOi
K04840

Identification of Orthologs from Complete Genome Data

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OMAi
VMSVITN

Database of Orthologous Groups

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OrthoDBi
172471at2759

Database for complete collections of gene phylogenies

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PhylomeDBi
Q9UQD0

TreeFam database of animal gene trees

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TreeFami
TF323985

Family and domain databases

Gene3D Structural and Functional Annotation of Protein Families

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Gene3Di
1.20.120.350, 4 hits

Integrated resource of protein families, domains and functional sites

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InterProi
View protein in InterPro
IPR005821 Ion_trans_dom
IPR000048 IQ_motif_EF-hand-BS
IPR008054 Na_channel_a8su
IPR001696 Na_channel_asu
IPR010526 Na_trans_assoc
IPR024583 Na_trans_cytopl
IPR027359 Volt_channel_dom_sf

Pfam protein domain database

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Pfami
View protein in Pfam
PF00520 Ion_trans, 4 hits
PF00612 IQ, 1 hit
PF06512 Na_trans_assoc, 1 hit
PF11933 Na_trans_cytopl, 1 hit

Protein Motif fingerprint database; a protein domain database

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PRINTSi
PR00170 NACHANNEL
PR01667 NACHANNEL8

Simple Modular Architecture Research Tool; a protein domain database

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SMARTi
View protein in SMART
SM00015 IQ, 1 hit

PROSITE; a protein domain and family database

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PROSITEi
View protein in PROSITE
PS50096 IQ, 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 (5+)i

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

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

This entry has 5 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform 11 Publication (identifier: Q9UQD0-1) [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
MAARLLAPPG PDSFKPFTPE SLANIERRIA ESKLKKPPKA DGSHREDDED
60 70 80 90 100
SKPKPNSDLE AGKSLPFIYG DIPQGLVAVP LEDFDPYYLT QKTFVVLNRG
110 120 130 140 150
KTLFRFSATP ALYILSPFNL IRRIAIKILI HSVFSMIIMC TILTNCVFMT
160 170 180 190 200
FSNPPDWSKN VEYTFTGIYT FESLVKIIAR GFCIDGFTFL RDPWNWLDFS
210 220 230 240 250
VIMMAYITEF VNLGNVSALR TFRVLRALKT ISVIPGLKTI VGALIQSVKK
260 270 280 290 300
LSDVMILTVF CLSVFALIGL QLFMGNLRNK CVVWPINFNE SYLENGTKGF
310 320 330 340 350
DWEEYINNKT NFYTVPGMLE PLLCGNSSDA GQCPEGYQCM KAGRNPNYGY
360 370 380 390 400
TSFDTFSWAF LALFRLMTQD YWENLYQLTL RAAGKTYMIF FVLVIFVGSF
410 420 430 440 450
YLVNLILAVV AMAYEEQNQA TLEEAEQKEA EFKAMLEQLK KQQEEAQAAA
460 470 480 490 500
MATSAGTVSE DAIEEEGEEG GGSPRSSSEI SKLSSKSAKE RRNRRKKRKQ
510 520 530 540 550
KELSEGEEKG DPEKVFKSES EDGMRRKAFR LPDNRIGRKF SIMNQSLLSI
560 570 580 590 600
PGSPFLSRHN SKSSIFSFRG PGRFRDPGSE NEFADDEHST VEESEGRRDS
610 620 630 640 650
LFIPIRARER RSSYSGYSGY SQGSRSSRIF PSLRRSVKRN STVDCNGVVS
660 670 680 690 700
LIGGPGSHIG GRLLPEATTE VEIKKKGPGS LLVSMDQLAS YGRKDRINSI
710 720 730 740 750
MSVVTNTLVE ELEESQRKCP PCWYKFANTF LIWECHPYWI KLKEIVNLIV
760 770 780 790 800
MDPFVDLAIT ICIVLNTLFM AMEHHPMTPQ FEHVLAVGNL VFTGIFTAEM
810 820 830 840 850
FLKLIAMDPY YYFQEGWNIF DGFIVSLSLM ELSLADVEGL SVLRSFRLLR
860 870 880 890 900
VFKLAKSWPT LNMLIKIIGN SVGALGNLTL VLAIIVFIFA VVGMQLFGKS
910 920 930 940 950
YKECVCKINQ DCELPRWHMH DFFHSFLIVF RVLCGEWIET MWDCMEVAGQ
960 970 980 990 1000
AMCLIVFMMV MVIGNLVVLN LFLALLLSSF SADNLAATDD DGEMNNLQIS
1010 1020 1030 1040 1050
VIRIKKGVAW TKLKVHAFMQ AHFKQREADE VKPLDELYEK KANCIANHTG
1060 1070 1080 1090 1100
ADIHRNGDFQ KNGNGTTSGI GSSVEKYIID EDHMSFINNP NLTVRVPIAV
1110 1120 1130 1140 1150
GESDFENLNT EDVSSESDPE GSKDKLDDTS SSEGSTIDIK PEVEEVPVEQ
1160 1170 1180 1190 1200
PEEYLDPDAC FTEGCVQRFK CCQVNIEEGL GKSWWILRKT CFLIVEHNWF
1210 1220 1230 1240 1250
ETFIIFMILL SSGALAFEDI YIEQRKTIRT ILEYADKVFT YIFILEMLLK
1260 1270 1280 1290 1300
WTAYGFVKFF TNAWCWLDFL IVAVSLVSLI ANALGYSELG AIKSLRTLRA
1310 1320 1330 1340 1350
LRPLRALSRF EGMRVVVNAL VGAIPSIMNV LLVCLIFWLI FSIMGVNLFA
1360 1370 1380 1390 1400
GKYHYCFNET SEIRFEIEDV NNKTECEKLM EGNNTEIRWK NVKINFDNVG
1410 1420 1430 1440 1450
AGYLALLQVA TFKGWMDIMY AAVDSRKPDE QPKYEDNIYM YIYFVIFIIF
1460 1470 1480 1490 1500
GSFFTLNLFI GVIIDNFNQQ KKKFGGQDIF MTEEQKKYYN AMKKLGSKKP
1510 1520 1530 1540 1550
QKPIPRPLNK IQGIVFDFVT QQAFDIVIMM LICLNMVTMM VETDTQSKQM
1560 1570 1580 1590 1600
ENILYWINLV FVIFFTCECV LKMFALRHYY FTIGWNIFDF VVVILSIVGM
1610 1620 1630 1640 1650
FLADIIEKYF VSPTLFRVIR LARIGRILRL IKGAKGIRTL LFALMMSLPA
1660 1670 1680 1690 1700
LFNIGLLLFL VMFIFSIFGM SNFAYVKHEA GIDDMFNFET FGNSMICLFQ
1710 1720 1730 1740 1750
ITTSAGWDGL LLPILNRPPD CSLDKEHPGS GFKGDCGNPS VGIFFFVSYI
1760 1770 1780 1790 1800
IISFLIVVNM YIAIILENFS VATEESADPL SEDDFETFYE IWEKFDPDAT
1810 1820 1830 1840 1850
QFIEYCKLAD FADALEHPLR VPKPNTIELI AMDLPMVSGD RIHCLDILFA
1860 1870 1880 1890 1900
FTKRVLGDSG ELDILRQQME ERFVASNPSK VSYEPITTTL RRKQEEVSAV
1910 1920 1930 1940 1950
VLQRAYRGHL ARRGFICKKT TSNKLENGGT HREKKESTPS TASLPSYDSV
1960 1970 1980
TKPEKEKQQR AEEGRRERAK RQKEVRESKC
Length:1,980
Mass (Da):225,280
Last modified:May 1, 2000 - v1
<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:i0EFC7BFB137FD4F0
GO
Isoform 21 Publication (identifier: Q9UQD0-2) [UniParc]FASTAAdd to basket
Also known as: 5A1 Publication

The sequence of this isoform differs from the canonical sequence as follows:
     207-207: I → V
     212-212: N → D

Show »
Length:1,980
Mass (Da):225,267
Checksum:i0510CF3CC31892F0
GO
Isoform 31 Publication (identifier: Q9UQD0-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     666-666: E → EVKIDKAATDDS

Show »
Length:1,991
Mass (Da):226,424
Checksum:i8C830A4CA55C69DE
GO
Isoform 41 Publication (identifier: Q9UQD0-4) [UniParc]FASTAAdd to basket
Also known as: 18N1 Publication

The sequence of this isoform differs from the canonical sequence as follows:
     1275-1283: SLVSLIANA → PLNLSGLI
     1284-1980: Missing.

Show »
Length:1,282
Mass (Da):145,118
Checksum:i43D3C2BD00DD44E5
GO
Isoform 5 (identifier: Q9UQD0-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     1275-1315: Missing.

Show »
Length:1,939
Mass (Da):220,798
Checksum:i3E44D910D3897BC4
GO

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

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F8W0Q0F8W0Q0_HUMAN
Sodium channel protein type 8 subun...
SCN8A
542Annotation 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>
A0A1W2PQI5A0A1W2PQI5_HUMAN
Sodium channel protein type 8 subun...
SCN8A
759Annotation 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>
A0A1B0GVD4A0A1B0GVD4_HUMAN
Sodium channel protein type 8 subun...
SCN8A
243Annotation 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>
A0A1B0GVM8A0A1B0GVM8_HUMAN
Sodium channel protein type 8 subun...
SCN8A
320Annotation 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 conflicti5L → V in AAF35390 (Ref. 5) Curated1
Sequence conflicti133V → L in AAD15789 (PubMed:9295353).Curated1
Sequence conflicti257L → M in AAF35390 (Ref. 5) Curated1
Sequence conflicti273F → I in ACM63162 (PubMed:19136557).Curated1
Sequence conflicti274 – 278MGNLR → HGEPS in AAF35390 (Ref. 5) Curated5
Sequence conflicti453T → N in AAF35390 (Ref. 5) Curated1
Sequence conflicti477S → F in AAF35390 (Ref. 5) Curated1
Sequence conflicti483L → I in AAF35390 (Ref. 5) Curated1
Sequence conflicti492R → S in AAF35390 (Ref. 5) Curated1
Sequence conflicti504S → F in AAF35390 (Ref. 5) Curated1
Sequence conflicti547 – 548LL → MF in AAF35390 (Ref. 5) Curated2
Sequence conflicti1416M → V in ACM63162 (PubMed:19136557).Curated1
Sequence conflicti1445V → I in AAD15789 (PubMed:9295353).Curated1
Sequence conflicti1519V → I in AAD15789 (PubMed:9295353).Curated1
Sequence conflicti1702T → A in AAF35390 (Ref. 5) Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07659858D → N in EIEE13; unknown pathological significance; no effect on channel activity. 1 Publication1
Natural variantiVAR_078752210F → L in EIEE13. 1 Publication1
Natural variantiVAR_076599215N → R in EIEE13; unknown pathological significance; requires 2 nucleotide substitutions. 1 Publication1
Natural variantiVAR_071674216V → D in EIEE13. 1 PublicationCorresponds to variant dbSNP:rs879255696EnsemblClinVar.1
Natural variantiVAR_072182223R → G in EIEE13; loss of function mutation; reduces channel activity. 1 PublicationCorresponds to variant dbSNP:rs672601319EnsemblClinVar.1
Natural variantiVAR_079722232S → P in EIEE13. 1 Publication1
Natural variantiVAR_076600260F → S in EIEE13; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs879255697EnsemblClinVar.1
Natural variantiVAR_078202307N → S in EIEE13; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs1057519557Ensembl.1
Natural variantiVAR_076601407L → F in EIEE13; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs879255698EnsemblClinVar.1
Natural variantiVAR_078753408A → T in EIEE13; unknown pathological significance. 1 Publication1
Natural variantiVAR_076602410V → L in EIEE13; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs879255699EnsemblClinVar.1
Natural variantiVAR_076603479E → V in EIEE13; unknown pathological significance. 1 Publication1
Natural variantiVAR_078612662R → C in EIEE13; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs76222829EnsemblClinVar.1
Natural variantiVAR_072183767T → I in EIEE13; gain-of-function mutation; increases channel activity. 1 PublicationCorresponds to variant dbSNP:rs797045013EnsemblClinVar.1
Natural variantiVAR_071675846F → S in EIEE13. 1 PublicationCorresponds to variant dbSNP:rs879255700EnsemblClinVar.1
Natural variantiVAR_079723850R → E in EIEE13; requires 2 nucleotide substitutions. 1 Publication1
Natural variantiVAR_076604850R → Q in EIEE13; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs587780586EnsemblClinVar.1
Natural variantiVAR_076605890A → T in EIEE13. 2 PublicationsCorresponds to variant dbSNP:rs879255702EnsemblClinVar.1
Natural variantiVAR_079724891V → M in EIEE13. 1 Publication1
Natural variantiVAR_076606960V → D in EIEE13; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs879255703EnsemblClinVar.1
Natural variantiVAR_078203978S → G in EIEE13. 1 PublicationCorresponds to variant dbSNP:rs1057519540Ensembl.1
Natural variantiVAR_076607984N → K in EIEE13; gain-of-function mutation; increased channel activity. 1 PublicationCorresponds to variant dbSNP:rs876657399EnsemblClinVar.1
Natural variantiVAR_0786131279L → V in EIEE13. 1 Publication1
Natural variantiVAR_0787541323A → S in EIEE13; unknown pathological significance. 1 Publication1
Natural variantiVAR_0716761327I → V in EIEE13. 2 PublicationsCorresponds to variant dbSNP:rs879255704EnsemblClinVar.1
Natural variantiVAR_0766081331L → V in EIEE13; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs397514738EnsemblClinVar.1
Natural variantiVAR_0766091451G → S in EIEE13; loss of channel activity. 1 PublicationCorresponds to variant dbSNP:rs863223345EnsemblClinVar.1
Natural variantiVAR_0716771466N → K in EIEE13. 1 PublicationCorresponds to variant dbSNP:rs587777722EnsemblClinVar.1
Natural variantiVAR_0716781466N → T in EIEE13. 1 PublicationCorresponds to variant dbSNP:rs587777723EnsemblClinVar.1
Natural variantiVAR_0782041475G → R in EIEE13. 2 PublicationsCorresponds to variant dbSNP:rs796053216EnsemblClinVar.1
Natural variantiVAR_0766101479I → V in EIEE13; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs796053217EnsemblClinVar.1
Natural variantiVAR_0769271483E → K in BFIS5. 1 PublicationCorresponds to variant dbSNP:rs879255652EnsemblClinVar.1
Natural variantiVAR_0766111592V → L in EIEE13; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs587780454EnsemblClinVar.1
Natural variantiVAR_0766121596S → C in EIEE13; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs879255705EnsemblClinVar.1
Natural variantiVAR_0797251598V → A in EIEE13. 1 Publication1
Natural variantiVAR_0766131605I → R in EIEE13; unknown pathological significance. 1 Publication1
Natural variantiVAR_0716791617R → Q in EIEE13; gain-of-function mutation; increased channel activity; impaired channel inactivation. 4 PublicationsCorresponds to variant dbSNP:rs587777721EnsemblClinVar.1
Natural variantiVAR_0716801650A → T in EIEE13. 3 PublicationsCorresponds to variant dbSNP:rs879255709EnsemblClinVar.1
Natural variantiVAR_0787551754F → S in EIEE13; unknown pathological significance. 1 Publication1
Natural variantiVAR_0675391768N → D in EIEE13; gain-of-function mutation; results in increased persistent sodium currents and incomplete channel inactivation. 1 PublicationCorresponds to variant dbSNP:rs202151337EnsemblClinVar.1
Natural variantiVAR_0766141801Q → E in EIEE13; unknown pathological significance. 1 PublicationCorresponds to variant dbSNP:rs879255710EnsemblClinVar.1
Natural variantiVAR_0787561865L → P in EIEE13; unknown pathological significance. 1 Publication1
Natural variantiVAR_0766151872R → L in EIEE13; gain-of-function mutation; increased channel activity; impaired channel inactivation. 1 PublicationCorresponds to variant dbSNP:rs796053229EnsemblClinVar.1
Natural variantiVAR_0766161872R → Q in EIEE13; gain-of-function mutation; increased channel activity; impaired channel inactivation. 2 PublicationsCorresponds to variant dbSNP:rs796053229EnsemblClinVar.1
Natural variantiVAR_0716811872R → W in EIEE13; gain-of-function mutation; increased channel activity; impaired channel inactivation; no effect on interactions with FGF14, SCN1B, GNB2 and GNG3. 5 PublicationsCorresponds to variant dbSNP:rs796053228EnsemblClinVar.1
Natural variantiVAR_0766171877N → S in EIEE13 and BFIS5; also found in a patient with drug-resistant focal epilepsy and mild intellectual disability. 3 PublicationsCorresponds to variant dbSNP:rs587780455EnsemblClinVar.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
<p>This subsection of the ‘Sequence’ section describes the sequence of naturally occurring alternative protein isoform(s). The changes in the amino acid sequence may be due to alternative splicing, alternative promoter usage, alternative initiation, or ribosomal frameshifting.<p><a href='/help/var_seq' target='_top'>More...</a></p>Alternative sequenceiVSP_050589207I → V in isoform 2. 1 Publication1
Alternative sequenceiVSP_050590212N → D in isoform 2. 1 Publication1
Alternative sequenceiVSP_050591666E → EVKIDKAATDDS in isoform 3. 1 Publication1
Alternative sequenceiVSP_0386511275 – 1315Missing in isoform 5. 1 PublicationAdd BLAST41
Alternative sequenceiVSP_0505921275 – 1283SLVSLIANA → PLNLSGLI in isoform 4. 1 Publication9
Alternative sequenceiVSP_0505931284 – 1980Missing in isoform 4. 1 PublicationAdd BLAST697

Sequence databases

Select the link destinations:

EMBL nucleotide sequence database

More...
EMBLi

GenBank nucleotide sequence database

More...
GenBanki

DNA Data Bank of Japan; a nucleotide sequence database

More...
DDBJi
Links Updated
AF050736
, AF050711, AF050712, AF050713, AF050714, AF050715, AF050716, AF050717, AF050718, AF050719, AF050720, AF050721, AF050722, AF050723, AF050724, AF050725, AF050726, AF050727, AF050728, AF050729, AF050730, AF050731, AF050732, AF050733, AF050734, AF050735 Genomic DNA Translation: AAD15789.1
AF049618 Genomic DNA Translation: AAD20439.1
FJ611941 mRNA Translation: ACM63162.1
AB027567 mRNA Translation: BAA78033.1
AF225988 mRNA Translation: AAF35390.1
AC013421 Genomic DNA No translation available.
AC025097 Genomic DNA No translation available.
AC068987 Genomic DNA No translation available.
AC140060 Genomic DNA No translation available.

The Consensus CDS (CCDS) project

More...
CCDSi
CCDS44891.1 [Q9UQD0-1]
CCDS53794.1 [Q9UQD0-5]
CCDS81692.1 [Q9UQD0-2]

NCBI Reference Sequences

More...
RefSeqi
NP_001171455.1, NM_001177984.2 [Q9UQD0-5]
NP_001317189.1, NM_001330260.1 [Q9UQD0-2]
NP_055006.1, NM_014191.3 [Q9UQD0-1]
XP_006719619.1, XM_006719556.3 [Q9UQD0-2]
XP_011536953.1, XM_011538651.2 [Q9UQD0-2]
XP_016875283.1, XM_017019794.1 [Q9UQD0-1]

UniGene gene-oriented nucleotide sequence clusters

More...
UniGenei
Hs.436550
Hs.710638

Genome annotation databases

Ensembl eukaryotic genome annotation project

More...
Ensembli
ENST00000354534; ENSP00000346534; ENSG00000196876 [Q9UQD0-1]
ENST00000355133; ENSP00000347255; ENSG00000196876 [Q9UQD0-5]
ENST00000545061; ENSP00000440360; ENSG00000196876 [Q9UQD0-5]
ENST00000599343; ENSP00000476447; ENSG00000196876 [Q9UQD0-3]
ENST00000627620; ENSP00000487583; ENSG00000196876 [Q9UQD0-2]

Database of genes from NCBI RefSeq genomes

More...
GeneIDi
6334

KEGG: Kyoto Encyclopedia of Genes and Genomes

More...
KEGGi
hsa:6334

UCSC genome browser

More...
UCSCi
uc001ryw.4 human [Q9UQD0-1]

Keywords - Coding sequence diversityi

Alternative splicing

<p>This section provides links to proteins that are similar to the protein sequence(s) described in this entry at different levels of sequence identity thresholds (100%, 90% and 50%) based on their membership in UniProt Reference Clusters (<a href="http://www.uniprot.org/help/uniref">UniRef</a>).<p><a href='/help/similar_proteins_section' target='_top'>More...</a></p>Similar proteinsi

<p>This section is used to point to information related to entries and found in data collections other than UniProtKB.<p><a href='/help/cross_references_section' target='_top'>More...</a></p>Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AF050736
, AF050711, AF050712, AF050713, AF050714, AF050715, AF050716, AF050717, AF050718, AF050719, AF050720, AF050721, AF050722, AF050723, AF050724, AF050725, AF050726, AF050727, AF050728, AF050729, AF050730, AF050731, AF050732, AF050733, AF050734, AF050735 Genomic DNA Translation: AAD15789.1
AF049618 Genomic DNA Translation: AAD20439.1
FJ611941 mRNA Translation: ACM63162.1
AB027567 mRNA Translation: BAA78033.1
AF225988 mRNA Translation: AAF35390.1
AC013421 Genomic DNA No translation available.
AC025097 Genomic DNA No translation available.
AC068987 Genomic DNA No translation available.
AC140060 Genomic DNA No translation available.
CCDSiCCDS44891.1 [Q9UQD0-1]
CCDS53794.1 [Q9UQD0-5]
CCDS81692.1 [Q9UQD0-2]
RefSeqiNP_001171455.1, NM_001177984.2 [Q9UQD0-5]
NP_001317189.1, NM_001330260.1 [Q9UQD0-2]
NP_055006.1, NM_014191.3 [Q9UQD0-1]
XP_006719619.1, XM_006719556.3 [Q9UQD0-2]
XP_011536953.1, XM_011538651.2 [Q9UQD0-2]
XP_016875283.1, XM_017019794.1 [Q9UQD0-1]
UniGeneiHs.436550
Hs.710638

3D structure databases

ProteinModelPortaliQ9UQD0
SMRiQ9UQD0
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi112238, 2 interactors
IntActiQ9UQD0, 2 interactors
STRINGi9606.ENSP00000346534

Chemistry databases

BindingDBiQ9UQD0
ChEMBLiCHEMBL5202
DrugBankiDB05232 Tetrodotoxin
DB00313 Valproic Acid
GuidetoPHARMACOLOGYi583

Protein family/group databases

TCDBi1.A.1.10.8 the voltage-gated ion channel (vic) superfamily

PTM databases

GlyConnecti1754
iPTMnetiQ9UQD0
PhosphoSitePlusiQ9UQD0

Polymorphism and mutation databases

BioMutaiSCN8A
DMDMi34098756

Proteomic databases

jPOSTiQ9UQD0
PaxDbiQ9UQD0
PeptideAtlasiQ9UQD0
PRIDEiQ9UQD0
ProteomicsDBi85544
85545 [Q9UQD0-2]
85546 [Q9UQD0-3]
85547 [Q9UQD0-4]
85548 [Q9UQD0-5]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000354534; ENSP00000346534; ENSG00000196876 [Q9UQD0-1]
ENST00000355133; ENSP00000347255; ENSG00000196876 [Q9UQD0-5]
ENST00000545061; ENSP00000440360; ENSG00000196876 [Q9UQD0-5]
ENST00000599343; ENSP00000476447; ENSG00000196876 [Q9UQD0-3]
ENST00000627620; ENSP00000487583; ENSG00000196876 [Q9UQD0-2]
GeneIDi6334
KEGGihsa:6334
UCSCiuc001ryw.4 human [Q9UQD0-1]

Organism-specific databases

Comparative Toxicogenomics Database

More...
CTDi
6334
DisGeNETi6334
EuPathDBiHostDB:ENSG00000196876.13

GeneCards: human genes, protein and diseases

More...
GeneCardsi
SCN8A
GeneReviewsiSCN8A
HGNCiHGNC:10596 SCN8A
MalaCardsiSCN8A
MIMi600702 gene
614306 phenotype
614558 phenotype
617080 phenotype
neXtProtiNX_Q9UQD0
OpenTargetsiENSG00000196876
Orphaneti306 Benign familial infantile epilepsy
31709 Infantile convulsions and choreoathetosis
442835 Undetermined early-onset epileptic encephalopathy
PharmGKBiPA35009

GenAtlas: human gene database

More...
GenAtlasi
Search...

Phylogenomic databases

eggNOGiKOG2301 Eukaryota
ENOG410XNP6 LUCA
GeneTreeiENSGT00940000156263
HOGENOMiHOG000231755
HOVERGENiHBG053100
InParanoidiQ9UQD0
KOiK04840
OMAiVMSVITN
OrthoDBi172471at2759
PhylomeDBiQ9UQD0
TreeFamiTF323985

Enzyme and pathway databases

ReactomeiR-HSA-445095 Interaction between L1 and Ankyrins
R-HSA-5576892 Phase 0 - rapid depolarisation
SIGNORiQ9UQD0

Miscellaneous databases

ChiTaRS: a database of human, mouse and fruit fly chimeric transcripts and RNA-sequencing data

More...
ChiTaRSi
SCN8A human

The Gene Wiki collection of pages on human genes and proteins

More...
GeneWikii
SCN8A

Database of phenotypes from RNA interference screens in Drosophila and Homo sapiens

More...
GenomeRNAii
6334

Protein Ontology

More...
PROi
PR:Q9UQD0

The Stanford Online Universal Resource for Clones and ESTs

More...
SOURCEi
Search...

Gene expression databases

BgeeiENSG00000196876 Expressed in 142 organ(s), highest expression level in frontal cortex
ExpressionAtlasiQ9UQD0 baseline and differential
GenevisibleiQ9UQD0 HS

Family and domain databases

Gene3Di1.20.120.350, 4 hits
InterProiView protein in InterPro
IPR005821 Ion_trans_dom
IPR000048 IQ_motif_EF-hand-BS
IPR008054 Na_channel_a8su
IPR001696 Na_channel_asu
IPR010526 Na_trans_assoc
IPR024583 Na_trans_cytopl
IPR027359 Volt_channel_dom_sf
PfamiView protein in Pfam
PF00520 Ion_trans, 4 hits
PF00612 IQ, 1 hit
PF06512 Na_trans_assoc, 1 hit
PF11933 Na_trans_cytopl, 1 hit
PRINTSiPR00170 NACHANNEL
PR01667 NACHANNEL8
SMARTiView protein in SMART
SM00015 IQ, 1 hit
PROSITEiView protein in PROSITE
PS50096 IQ, 1 hit

ProtoNet; Automatic hierarchical classification of proteins

More...
ProtoNeti
Search...

<p>This section provides general information on the entry.<p><a href='/help/entry_information_section' target='_top'>More...</a></p>Entry informationi

<p>This subsection of the ‘Entry information’ section provides a mnemonic identifier for a UniProtKB entry, but it is not a stable identifier. Each reviewed entry is assigned a unique entry name upon integration into UniProtKB/Swiss-Prot.<p><a href='/help/entry_name' target='_top'>More...</a></p>Entry nameiSCN8A_HUMAN
<p>This subsection of the ‘Entry information’ section provides one or more accession number(s). These are stable identifiers and should be used to cite UniProtKB entries. Upon integration into UniProtKB, each entry is assigned a unique accession number, which is called ‘Primary (citable) accession number’.<p><a href='/help/accession_numbers' target='_top'>More...</a></p>AccessioniPrimary (citable) accession number: Q9UQD0
Secondary accession number(s): B9VWG8
, O95788, Q9NYX2, Q9UPB2
<p>This subsection of the ‘Entry information’ section shows the date of integration of the entry into UniProtKB, the date of the last sequence update and the date of the last annotation modification (‘Last modified’). The version number for both the entry and the <a href="http://www.uniprot.org/help/canonical_and_isoforms">canonical sequence</a> are also displayed.<p><a href='/help/entry_history' target='_top'>More...</a></p>Entry historyiIntegrated into UniProtKB/Swiss-Prot: August 15, 2003
Last sequence update: May 1, 2000
Last modified: February 13, 2019
This is version 171 of the entry and version 1 of the sequence. See complete history.
<p>This subsection of the ‘Entry information’ section indicates whether the entry has been manually annotated and reviewed by UniProtKB curators or not, in other words, if the entry belongs to the Swiss-Prot section of UniProtKB (<strong>reviewed</strong>) or to the computer-annotated TrEMBL section (<strong>unreviewed</strong>).<p><a href='/help/entry_status' target='_top'>More...</a></p>Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

<p>This section contains any relevant information that doesn’t fit in any other defined sections<p><a href='/help/miscellaneous_section' target='_top'>More...</a></p>Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human chromosome 12
    Human chromosome 12: entries, gene names and cross-references to MIM
  3. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  4. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  5. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
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