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Q01118

- SCN7A_HUMAN

UniProt

Q01118 - SCN7A_HUMAN

Protein

Sodium channel protein type 7 subunit alpha

Gene

SCN7A

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at transcript leveli
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    • History
      Entry version 139 (01 Oct 2014)
      Sequence version 2 (18 May 2010)
      Previous versions | rss
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    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.

    GO - Molecular functioni

    1. voltage-gated sodium channel activity Source: RefGenome

    GO - Biological processi

    1. membrane depolarization during action potential Source: RefGenome
    2. muscle contraction Source: ProtInc
    3. neuronal action potential Source: RefGenome
    4. sodium ion homeostasis Source: Ensembl
    5. sodium ion transmembrane transport Source: RefGenome
    6. sodium ion transport Source: ProtInc

    Keywords - Molecular functioni

    Ion channel, Sodium channel, Voltage-gated channel

    Keywords - Biological processi

    Ion transport, Sodium transport, Transport

    Keywords - Ligandi

    Sodium

    Enzyme and pathway databases

    ReactomeiREACT_22266. Interaction between L1 and Ankyrins.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Sodium channel protein type 7 subunit alpha
    Alternative name(s):
    Putative voltage-gated sodium channel subunit alpha Nax
    Sodium channel protein cardiac and skeletal muscle subunit alpha
    Sodium channel protein type VII subunit alpha
    Gene namesi
    Name:SCN7A
    Synonyms:SCN6A
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 2

    Organism-specific databases

    HGNCiHGNC:10594. SCN7A.

    Subcellular locationi

    GO - Cellular componenti

    1. glial cell projection Source: Ensembl
    2. plasma membrane Source: RefGenome
    3. voltage-gated sodium channel complex Source: InterPro

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Organism-specific databases

    PharmGKBiPA35008.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 16821682Sodium channel protein type 7 subunit alphaPRO_0000048499Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi276 – 2761N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi281 – 2811N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi309 – 3091N-linked (GlcNAc...)Sequence Analysis
    Modified residuei442 – 4421Phosphoserine; by PKASequence Analysis
    Modified residuei777 – 7771Phosphothreonine; by PKASequence Analysis
    Modified residuei869 – 8691Phosphoserine; by PKASequence Analysis
    Modified residuei905 – 9051Phosphoserine; by PKASequence Analysis
    Glycosylationi1103 – 11031N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi1113 – 11131N-linked (GlcNAc...)Sequence Analysis

    Keywords - PTMi

    Glycoprotein, Phosphoprotein

    Proteomic databases

    PaxDbiQ01118.
    PRIDEiQ01118.

    PTM databases

    PhosphoSiteiQ01118.

    Expressioni

    Tissue specificityi

    Heart and uterus.

    Gene expression databases

    ArrayExpressiQ01118.
    BgeeiQ01118.
    CleanExiHS_SCN7A.
    GenevestigatoriQ01118.

    Organism-specific databases

    HPAiHPA004879.

    Interactioni

    Protein-protein interaction databases

    STRINGi9606.ENSP00000386796.

    Structurei

    3D structure databases

    ProteinModelPortaliQ01118.
    SMRiQ01118. Positions 119-259, 498-728, 930-1194, 1253-1649.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 113113CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini141 – 1422ExtracellularSequence Analysis
    Topological domaini169 – 17911CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini203 – 2031ExtracellularSequence Analysis
    Topological domaini224 – 23916CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini265 – 368104ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini396 – 500105CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini525 – 53511ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini560 – 5667CytoplasmicSequence Analysis
    Topological domaini591 – 5922ExtracellularSequence Analysis
    Topological domaini610 – 62920CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini651 – 70454ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini729 – 929201CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini959 – 9657ExtracellularSequence Analysis
    Topological domaini992 – 9965CytoplasmicSequence Analysis
    Topological domaini1020 – 10212ExtracellularSequence Analysis
    Topological domaini1041 – 105919CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini1081 – 116686ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini1194 – 124754CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini1271 – 128010ExtracellularSequence Analysis
    Topological domaini1306 – 13116CytoplasmicSequence Analysis
    Topological domaini1336 – 13449ExtracellularSequence Analysis
    Topological domaini1370 – 13789CytoplasmicSequence Analysis
    Topological domaini1406 – 146964ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini1497 – 1682186CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei114 – 14027Helical; Name=S1 of repeat IBy similarityAdd
    BLAST
    Transmembranei143 – 16826Helical; Name=S2 of repeat IBy similarityAdd
    BLAST
    Transmembranei180 – 20223Helical; Name=S3 of repeat IBy similarityAdd
    BLAST
    Transmembranei204 – 22320Helical; Voltage-sensor; Name=S4 of repeat IBy similarityAdd
    BLAST
    Transmembranei240 – 26425Helical; Name=S5 of repeat IBy similarityAdd
    BLAST
    Transmembranei369 – 39527Helical; Name=S6 of repeat IBy similarityAdd
    BLAST
    Transmembranei501 – 52424Helical; Name=S1 of repeat IIBy similarityAdd
    BLAST
    Transmembranei536 – 55924Helical; Name=S2 of repeat IIBy similarityAdd
    BLAST
    Transmembranei567 – 59024Helical; Name=S3 of repeat IIBy similarityAdd
    BLAST
    Transmembranei593 – 60917Helical; Voltage-sensor; Name=S4 of repeat IIBy similarityAdd
    BLAST
    Transmembranei630 – 65021Helical; Name=S5 of repeat IIBy similarityAdd
    BLAST
    Transmembranei705 – 72824Helical; Name=S6 of repeat IIBy similarityAdd
    BLAST
    Transmembranei930 – 95829Helical; Name=S1 of repeat IIIBy similarityAdd
    BLAST
    Transmembranei966 – 99126Helical; Name=S2 of repeat IIIBy similarityAdd
    BLAST
    Transmembranei997 – 101923Helical; Name=S3 of repeat IIIBy similarityAdd
    BLAST
    Transmembranei1022 – 104019Helical; Voltage-sensor; Name=S4 of repeat IIIBy similarityAdd
    BLAST
    Transmembranei1060 – 108021Helical; Name=S5 of repeat IIIBy similarityAdd
    BLAST
    Transmembranei1167 – 119327Helical; Name=S6 of repeat IIIBy similarityAdd
    BLAST
    Transmembranei1248 – 127023Helical; Name=S1 of repeat IVBy similarityAdd
    BLAST
    Transmembranei1281 – 130525Helical; Name=S2 of repeat IVBy similarityAdd
    BLAST
    Transmembranei1312 – 133524Helical; Name=S3 of repeat IVBy similarityAdd
    BLAST
    Transmembranei1345 – 136925Helical; Voltage-sensor; Name=S4 of repeat IVBy similarityAdd
    BLAST
    Transmembranei1379 – 140527Helical; Name=S5 of repeat IVBy similarityAdd
    BLAST
    Transmembranei1470 – 149627Helical; Name=S6 of repeat IVBy similarityAdd
    BLAST

    Family & Domainsi

    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.

    Sequence similaritiesi

    Keywords - Domaini

    Repeat, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiNOG268129.
    HOGENOMiHOG000231755.
    HOVERGENiHBG053100.
    InParanoidiQ01118.
    KOiK04839.
    OMAiLEYADMI.
    OrthoDBiEOG7DJSK9.
    PhylomeDBiQ01118.
    TreeFamiTF323985.

    Family and domain databases

    Gene3Di1.20.120.350. 4 hits.
    InterProiIPR027359. Channel_four-helix_dom.
    IPR005821. Ion_trans_dom.
    IPR000048. IQ_motif_EF-hand-BS.
    IPR028812. Na_channel_a7su.
    IPR001696. Na_channel_asu.
    IPR010526. Na_trans_assoc.
    [Graphical view]
    PANTHERiPTHR10037:SF14. PTHR10037:SF14. 1 hit.
    PfamiPF00520. Ion_trans. 4 hits.
    PF06512. Na_trans_assoc. 1 hit.
    [Graphical view]
    PRINTSiPR00170. NACHANNEL.
    SMARTiSM00015. IQ. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Q01118-1 [UniParc]FASTAAdd to Basket

    « Hide

    MLASPEPKGL VPFTKESFEL IKQHIAKTHN EDHEEEDLKP TPDLEVGKKL     50
    PFIYGNLSQG MVSEPLEDVD PYYYKKKNTF IVLNKNRTIF RFNAASILCT 100
    LSPFNCIRRT TIKVLVHPFF QLFILISVLI DCVFMSLTNL PKWRPVLENT 150
    LLGIYTFEIL VKLFARGVWA GSFSFLGDPW NWLDFSVTVF EVIIRYSPLD 200
    FIPTLQTART LRILKIIPLN QGLKSLVGVL IHCLKQLIGV IILTLFFLSI 250
    FSLIGMGLFM GNLKHKCFRW PQENENETLH NRTGNPYYIR ETENFYYLEG 300
    ERYALLCGNR TDAGQCPEGY VCVKAGINPD QGFTNFDSFG WALFALFRLM 350
    AQDYPEVLYH QILYASGKVY MIFFVVVSFL FSFYMASLFL GILAMAYEEE 400
    KQRVGEISKK IEPKFQQTGK ELQEGNETDE AKTIQIEMKK RSPISTDTSL 450
    DVLEDATLRH KEELEKSKKI CPLYWYKFAK TFLIWNCSPC WLKLKEFVHR 500
    IIMAPFTDLF LIICIILNVC FLTLEHYPMS KQTNTLLNIG NLVFIGIFTA 550
    EMIFKIIAMH PYGYFQVGWN IFDSMIVFHG LIELCLANVA GMALLRLFRM 600
    LRIFKLGKYW PTFQILMWSL SNSWVALKDL VLLLFTFIFF SAAFGMKLFG 650
    KNYEEFVCHI DKDCQLPRWH MHDFFHSFLN VFRILCGEWV ETLWDCMEVA 700
    GQSWCIPFYL MVILIGNLLV LYLFLALVSS FSSCKDVTAE ENNEAKNLQL 750
    AVARIKKGIN YVLLKILCKT QNVPKDTMDH VNEVYVKEDI SDHTLSELSN 800
    TQDFLKDKEK SSGTEKNATE NESQSLIPSP SVSETVPIAS GESDIENLDN 850
    KEIQSKSGDG GSKEKIKQSS SSECSTVDIA ISEEEEMFYG GERSKHLKNG 900
    CRRGSSLGQI SGASKKGKIW QNIRKTCCKI VENNWFKCFI GLVTLLSTGT 950
    LAFEDIYMDQ RKTIKILLEY ADMIFTYIFI LEMLLKWMAY GFKAYFSNGW 1000
    YRLDFVVVIV FCLSLIGKTR EELKPLISMK FLRPLRVLSQ FERMKVVVRA 1050
    LIKTTLPTLN VFLVCLMIWL IFSIMGVDLF AGRFYECIDP TSGERFPSSE 1100
    VMNKSRCESL LFNESMLWEN AKMNFDNVGN GFLSLLQVAT FNGWITIMNS 1150
    AIDSVAVNIQ PHFEVNIYMY CYFINFIIFG VFLPLSMLIT VIIDNFNKHK 1200
    IKLGGSNIFI TVKQRKQYRR LKKLMYEDSQ RPVPRPLNKL QGFIFDVVTS 1250
    QAFNVIVMVL ICFQAIAMMI DTDVQSLQMS IALYWINSIF VMLYTMECIL 1300
    KLIAFRCFYF TIAWNIFDFM VVIFSITGLC LPMTVGSYLV PPSLVQLILL 1350
    SRIIHMLRLG KGPKVFHNLM LPLMLSLPAL LNIILLIFLV MFIYAVFGMY 1400
    NFAYVKKEAG INDVSNFETF GNSMLCLFQV AIFAGWDGML DAIFNSKWSD 1450
    CDPDKINPGT QVRGDCGNPS VGIFYFVSYI LISWLIIVNM YIVVVMEFLN 1500
    IASKKKNKTL SEDDFRKFFQ VWKRFDPDRT QYIDSSKLSD FAAALDPPLF 1550
    MAKPNKGQLI ALDLPMAVGD RIHCLDILLA FTKRVMGQDV RMEKVVSEIE 1600
    SGFLLANPFK ITCEPITTTL KRKQEAVSAT IIQRAYKNYR LRRNDKNTSD 1650
    IHMIDGDRDV HATKEGAYFD KAKEKSPIQS QI 1682
    Length:1,682
    Mass (Da):193,493
    Last modified:May 18, 2010 - v2
    Checksum:i38CD8D41975BCE18
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti361 – 3611Q → L in AAA59899. (PubMed:1317577)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti41 – 411T → N.1 Publication
    Corresponds to variant rs7565062 [ dbSNP | Ensembl ].
    VAR_063120
    Natural varianti407 – 4071I → V.
    Corresponds to variant rs11888208 [ dbSNP | Ensembl ].
    VAR_024410
    Natural varianti600 – 6001M → L.
    Corresponds to variant rs34183637 [ dbSNP | Ensembl ].
    VAR_055641
    Natural varianti958 – 9581M → I.1 Publication
    Corresponds to variant rs6738031 [ dbSNP | Ensembl ].
    VAR_063121
    Natural varianti1313 – 13131A → V.
    Corresponds to variant rs6760593 [ dbSNP | Ensembl ].
    VAR_055642
    Natural varianti1516 – 15161R → K.
    Corresponds to variant rs34799257 [ dbSNP | Ensembl ].
    VAR_055643
    Natural varianti1596 – 15961V → L.
    Corresponds to variant rs3791251 [ dbSNP | Ensembl ].
    VAR_055644
    Natural varianti1657 – 16571D → G.
    Corresponds to variant rs35344714 [ dbSNP | Ensembl ].
    VAR_055645

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M91556 mRNA. Translation: AAA59899.1.
    AC074101 Genomic DNA. No translation available.
    AC092583 Genomic DNA. No translation available.
    CCDSiCCDS46442.1.
    PIRiA45380.
    RefSeqiNP_002967.2. NM_002976.3.
    XP_006712743.1. XM_006712680.1.
    XP_006712744.1. XM_006712681.1.
    XP_006712745.1. XM_006712682.1.
    UniGeneiHs.596087.
    Hs.644853.

    Genome annotation databases

    EnsembliENST00000409855; ENSP00000386796; ENSG00000136546.
    GeneIDi6332.
    KEGGihsa:6332.
    UCSCiuc002udu.2. human.

    Polymorphism databases

    DMDMi296452902.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M91556 mRNA. Translation: AAA59899.1 .
    AC074101 Genomic DNA. No translation available.
    AC092583 Genomic DNA. No translation available.
    CCDSi CCDS46442.1.
    PIRi A45380.
    RefSeqi NP_002967.2. NM_002976.3.
    XP_006712743.1. XM_006712680.1.
    XP_006712744.1. XM_006712681.1.
    XP_006712745.1. XM_006712682.1.
    UniGenei Hs.596087.
    Hs.644853.

    3D structure databases

    ProteinModelPortali Q01118.
    SMRi Q01118. Positions 119-259, 498-728, 930-1194, 1253-1649.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    STRINGi 9606.ENSP00000386796.

    Chemistry

    ChEMBLi CHEMBL2331043.

    PTM databases

    PhosphoSitei Q01118.

    Polymorphism databases

    DMDMi 296452902.

    Proteomic databases

    PaxDbi Q01118.
    PRIDEi Q01118.

    Protocols and materials databases

    Structural Biology Knowledgebase Search...

    Genome annotation databases

    Ensembli ENST00000409855 ; ENSP00000386796 ; ENSG00000136546 .
    GeneIDi 6332.
    KEGGi hsa:6332.
    UCSCi uc002udu.2. human.

    Organism-specific databases

    CTDi 6332.
    GeneCardsi GC02M167225.
    HGNCi HGNC:10594. SCN7A.
    HPAi HPA004879.
    MIMi 182392. gene.
    neXtProti NX_Q01118.
    PharmGKBi PA35008.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi NOG268129.
    HOGENOMi HOG000231755.
    HOVERGENi HBG053100.
    InParanoidi Q01118.
    KOi K04839.
    OMAi LEYADMI.
    OrthoDBi EOG7DJSK9.
    PhylomeDBi Q01118.
    TreeFami TF323985.

    Enzyme and pathway databases

    Reactomei REACT_22266. Interaction between L1 and Ankyrins.

    Miscellaneous databases

    GeneWikii SCN7A.
    GenomeRNAii 6332.
    NextBioi 24592.
    PROi Q01118.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi Q01118.
    Bgeei Q01118.
    CleanExi HS_SCN7A.
    Genevestigatori Q01118.

    Family and domain databases

    Gene3Di 1.20.120.350. 4 hits.
    InterProi IPR027359. Channel_four-helix_dom.
    IPR005821. Ion_trans_dom.
    IPR000048. IQ_motif_EF-hand-BS.
    IPR028812. Na_channel_a7su.
    IPR001696. Na_channel_asu.
    IPR010526. Na_trans_assoc.
    [Graphical view ]
    PANTHERi PTHR10037:SF14. PTHR10037:SF14. 1 hit.
    Pfami PF00520. Ion_trans. 4 hits.
    PF06512. Na_trans_assoc. 1 hit.
    [Graphical view ]
    PRINTSi PR00170. NACHANNEL.
    SMARTi SM00015. IQ. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Molecular cloning of an atypical voltage-gated sodium channel expressed in human heart and uterus: evidence for a distinct gene family."
      George A.L. Jr., Knittle T.J., Tamkun M.M.
      Proc. Natl. Acad. Sci. U.S.A. 89:4893-4897(1992) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS ASN-41 AND ILE-958.
      Tissue: Fetal skeletal muscle and Heart.
    2. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4."
      Hillier L.W., Graves T.A., Fulton R.S., Fulton L.A., Pepin K.H., Minx P., Wagner-McPherson C., Layman D., Wylie K., Sekhon M., Becker M.C., Fewell G.A., Delehaunty K.D., Miner T.L., Nash W.E., Kremitzki C., Oddy L., Du H.
      , Sun H., Bradshaw-Cordum H., Ali J., Carter J., Cordes M., Harris A., Isak A., van Brunt A., Nguyen C., Du F., Courtney L., Kalicki J., Ozersky P., Abbott S., Armstrong J., Belter E.A., Caruso L., Cedroni M., Cotton M., Davidson T., Desai A., Elliott G., Erb T., Fronick C., Gaige T., Haakenson W., Haglund K., Holmes A., Harkins R., Kim K., Kruchowski S.S., Strong C.M., Grewal N., Goyea E., Hou S., Levy A., Martinka S., Mead K., McLellan M.D., Meyer R., Randall-Maher J., Tomlinson C., Dauphin-Kohlberg S., Kozlowicz-Reilly A., Shah N., Swearengen-Shahid S., Snider J., Strong J.T., Thompson J., Yoakum M., Leonard S., Pearman C., Trani L., Radionenko M., Waligorski J.E., Wang C., Rock S.M., Tin-Wollam A.-M., Maupin R., Latreille P., Wendl M.C., Yang S.-P., Pohl C., Wallis J.W., Spieth J., Bieri T.A., Berkowicz N., Nelson J.O., Osborne J., Ding L., Meyer R., Sabo A., Shotland Y., Sinha P., Wohldmann P.E., Cook L.L., Hickenbotham M.T., Eldred J., Williams D., Jones T.A., She X., Ciccarelli F.D., Izaurralde E., Taylor J., Schmutz J., Myers R.M., Cox D.R., Huang X., McPherson J.D., Mardis E.R., Clifton S.W., Warren W.C., Chinwalla A.T., Eddy S.R., Marra M.A., Ovcharenko I., Furey T.S., Miller W., Eichler E.E., Bork P., Suyama M., Torrents D., Waterston R.H., Wilson R.K.
      Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].

    Entry informationi

    Entry nameiSCN7A_HUMAN
    AccessioniPrimary (citable) accession number: Q01118
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: July 1, 1993
    Last sequence update: May 18, 2010
    Last modified: October 1, 2014
    This is version 139 of the entry and version 2 of the sequence. [Complete history]
    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.

    Miscellaneousi

    Keywords - Technical termi

    Complete proteome, Reference proteome

    Documents

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

    External Data

    Dasty 3