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P35499

- SCN4A_HUMAN

UniProt

P35499 - SCN4A_HUMAN

Protein

Sodium channel protein type 4 subunit alpha

Gene

SCN4A

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 152 (01 Oct 2014)
      Sequence version 4 (23 Mar 2010)
      Previous versions | rss
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    Functioni

    This protein 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. This sodium channel may be present in both denervated and innervated skeletal muscle.

    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 transmembrane transport Source: RefGenome
    5. 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.

    Protein family/group databases

    TCDBi1.A.1.10.4. the voltage-gated ion channel (vic) superfamily.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Sodium channel protein type 4 subunit alpha
    Alternative name(s):
    SkM1
    Sodium channel protein skeletal muscle subunit alpha
    Sodium channel protein type IV subunit alpha
    Voltage-gated sodium channel subunit alpha Nav1.4
    Gene namesi
    Name:SCN4A
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 17

    Organism-specific databases

    HGNCiHGNC:10591. SCN4A.

    Subcellular locationi

    GO - Cellular componenti

    1. integral component of plasma membrane Source: ProtInc
    2. plasma membrane Source: RefGenome
    3. voltage-gated sodium channel complex Source: InterPro

    Keywords - Cellular componenti

    Membrane

    Pathology & Biotechi

    Involvement in diseasei

    Paramyotonia congenita of von Eulenburg (PMC) [MIM:168300]: An autosomal dominant channelopathy characterized by myotonia, increased by exposure to cold, intermittent flaccid paresis, not necessarily dependent on cold or myotonia, lability of serum potassium, non-progressive nature and lack of atrophy or hypertrophy of muscles. In some patients, myotonia is not increased by cold exposure (paramyotonia without cold paralysis). Patients may have a combination phenotype of PMC and HYPP.14 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti270 – 2701Q → K in PMC. 2 Publications
    VAR_054936
    Natural varianti693 – 6931I → T in PMC. 1 Publication
    VAR_065231
    Natural varianti704 – 7041T → M in HYPP and PMC. 3 Publications
    VAR_001562
    Natural varianti804 – 8041S → F in PMC. 1 Publication
    VAR_001563
    Natural varianti1152 – 11521A → D in PMC. 1 Publication
    VAR_022341
    Natural varianti1156 – 11561A → T in PMC, MYOSCN4A and HYPP. 2 Publications
    VAR_001565
    Natural varianti1293 – 12931V → I in PMC; without cold paralysis. 1 Publication
    VAR_001566
    Natural varianti1306 – 13061G → A in PMC. 2 Publications
    VAR_001567
    Natural varianti1306 – 13061G → E in MYOSCN4A and PMC; severe. 4 Publications
    VAR_001568
    Natural varianti1306 – 13061G → V in MYOSCN4A and PMC. 3 Publications
    VAR_001569
    Natural varianti1313 – 13131T → M in PMC. 2 Publications
    VAR_001570
    Natural varianti1433 – 14331L → R in PMC and HYPP. 1 Publication
    VAR_001571
    Natural varianti1436 – 14361L → P in PMC. 1 Publication
    VAR_054947
    Natural varianti1448 – 14481R → C in PMC. 2 Publications
    VAR_001572
    Natural varianti1448 – 14481R → H in PMC. 2 Publications
    VAR_001573
    Natural varianti1448 – 14481R → L in PMC. 1 Publication
    VAR_054948
    Natural varianti1456 – 14561G → E in PMC. 3 Publications
    VAR_037107
    Natural varianti1473 – 14731F → S in PMC; accelerates deactivation from the inactivated state and enhances the remobilization of gating charge. 1 Publication
    VAR_054949
    Natural varianti1589 – 15891V → M in PMC. 2 Publications
    VAR_001574
    Natural varianti1705 – 17051F → I in PMC; increases the extent of charge immobilization in response to strong depolarization.
    VAR_054952
    Periodic paralysis hypokalemic 2 (HOKPP2) [MIM:613345]: An autosomal dominant disorder manifested by episodic flaccid generalized muscle weakness associated with falls of serum potassium levels.9 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti222 – 2221R → W in HOKPP2. 1 Publication
    VAR_054935
    Natural varianti669 – 6691R → H in HOKPP2. 2 Publications
    VAR_017788
    Natural varianti672 – 6721R → C in HOKPP2. 2 Publications
    VAR_054939
    Natural varianti672 – 6721R → G in HOKPP2. 3 Publications
    VAR_017789
    Natural varianti672 – 6721R → H in HOKPP2. 3 Publications
    VAR_017790
    Natural varianti672 – 6721R → S in HOKPP2. 3 Publications
    VAR_017791
    Natural varianti1129 – 11291R → Q in NKPP and HOKPP2; detected in a family where three affected members manifested hypokalemic periodic paralysis whereas five other patients had normokalemic periodic paralysis. 1 Publication
    VAR_064987
    Natural varianti1132 – 11321R → Q in HOKPP2. 1 Publication
    VAR_054943
    Natural varianti1135 – 11351R → H in HOKPP2. 1 Publication
    VAR_054944
    Natural varianti1158 – 11581P → S in HOKPP2. 1 Publication
    VAR_017792
    Periodic paralysis hyperkalemic (HYPP) [MIM:170500]: An autosomal dominant channelopathy characterized by episodic flaccid generalized muscle weakness associated with high levels of serum potassium. Concurrence of myotonia is found in HYPP patients.4 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti704 – 7041T → M in HYPP and PMC. 3 Publications
    VAR_001562
    Natural varianti781 – 7811V → I in HYPP and NKPP. 2 Publications
    Corresponds to variant rs62070884 [ dbSNP | Ensembl ].
    VAR_054941
    Natural varianti1156 – 11561A → T in PMC, MYOSCN4A and HYPP. 2 Publications
    VAR_001565
    Natural varianti1433 – 14331L → R in PMC and HYPP. 1 Publication
    VAR_001571
    Natural varianti1592 – 15921M → V in HYPP and NKPP. 2 Publications
    VAR_001575
    Periodic paralysis normokalemic (NKPP) [MIM:170500]: A disorder closely related to hyperkalemic periodic paralysis, but marked by a lack of alterations in potassium levels during attacks of muscle weakness.3 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti675 – 6751R → G in NKPP. 1 Publication
    VAR_037104
    Natural varianti675 – 6751R → Q in NKPP. 2 Publications
    VAR_037105
    Natural varianti675 – 6751R → W in NKPP. 1 Publication
    VAR_037106
    Natural varianti781 – 7811V → I in HYPP and NKPP. 2 Publications
    Corresponds to variant rs62070884 [ dbSNP | Ensembl ].
    VAR_054941
    Natural varianti1129 – 11291R → Q in NKPP and HOKPP2; detected in a family where three affected members manifested hypokalemic periodic paralysis whereas five other patients had normokalemic periodic paralysis. 1 Publication
    VAR_064987
    Natural varianti1592 – 15921M → V in HYPP and NKPP. 2 Publications
    VAR_001575
    Myotonia SCN4A-related (MYOSCN4A) [MIM:608390]: A phenotypically highly variable myotonia aggravated by potassium loading, and sometimes by cold. Myotonia is characterized by sustained muscle tensing that prevents muscles from relaxing normally. It causes muscle stiffness that can interfere with movement. In some people the stiffness is very mild, while in other cases it may be severe enough to interfere with walking, running, and other activities of daily life. Myotonia SCN4A-related includes myotonia permanens and myotonia fluctuans. In myotonia permanens, the myotonia is generalized and there is a hypertrophy of the muscle, particularly in the neck and the shoulder. Attacks of severe muscle stiffness of the thoracic muscles may be life threatening due to impaired ventilation. In myotonia fluctuans, the muscle stiffness may fluctuate from day to day, provoked by exercise.11 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti141 – 1411I → V in MYOSCN4A; causes a hyperpolarizing shift of the activation curve; enhances channel slow inactivation. 1 Publication
    VAR_054934
    Natural varianti225 – 2251R → W in MYOSCN4A. 1 Publication
    VAR_065230
    Natural varianti445 – 4451V → M in MYOSCN4A. 3 Publications
    VAR_017786
    Natural varianti452 – 4521E → K in MYOSCN4A; variable phenotype ranging from mild to severe myotonia. 1 Publication
    VAR_054937
    Natural varianti671 – 6711F → S in MYOSCN4A. 1 Publication
    VAR_054938
    Natural varianti715 – 7151A → T in MYOSCN4A. 1 Publication
    VAR_054940
    Natural varianti804 – 8041S → N in MYOSCN4A. 1 Publication
    VAR_054942
    Natural varianti1156 – 11561A → T in PMC, MYOSCN4A and HYPP. 2 Publications
    VAR_001565
    Natural varianti1160 – 11601I → V in MYOSCN4A; acetazolamide-responsive myotonia. 1 Publication
    VAR_017793
    Natural varianti1297 – 12971N → K in MYOSCN4A; unusually severe and lethal phenotype with neonatal onset. 1 Publication
    VAR_054945
    Natural varianti1306 – 13061G → E in MYOSCN4A and PMC; severe. 4 Publications
    VAR_001568
    Natural varianti1306 – 13061G → V in MYOSCN4A and PMC. 3 Publications
    VAR_001569
    Natural varianti1310 – 13101I → N in MYOSCN4A. 1 Publication
    VAR_054946
    Natural varianti1476 – 14761M → I in MYOSCN4A; highly variable severity. 2 Publications
    VAR_054950
    Natural varianti1481 – 14811A → D in MYOSCN4A; fluctuating cold-induced and exercise-induced stiffness. 1 Publication
    VAR_054951
    Myasthenic syndrome, congenital, acetazolamide-responsive (CMSAR) [MIM:614198]: A congenital myasthenic syndrome associated with fatigable generalized weakness and recurrent attacks of respiratory and bulbar paralysis since birth. The fatigable weakness involves lid-elevator, external ocular, facial, limb and truncal muscles and an decremental response of the compound muscle action potential on repetitive stimulation.1 Publication
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti1442 – 14421V → E in CMSAR. 1 Publication
    VAR_017795

    Keywords - Diseasei

    Congenital myasthenic syndrome, Disease mutation

    Organism-specific databases

    MIMi168300. phenotype.
    170500. phenotype.
    608390. phenotype.
    613345. phenotype.
    614198. phenotype.
    Orphaneti99736. Acetazolamide-responsive myotonia.
    682. Hyperkalemic periodic paralysis.
    681. Hypokalemic periodic paralysis.
    99734. Myotonia fluctuans.
    99735. Myotonia permanens.
    684. Paramyotonia congenita of Von Eulenburg.
    98913. Postsynaptic congenital myasthenic syndromes.
    PharmGKBiPA35006.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Chaini1 – 18361836Sodium channel protein type 4 subunit alphaPRO_0000048495Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Glycosylationi214 – 2141N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi288 – 2881N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi291 – 2911N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi297 – 2971N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi303 – 3031N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi315 – 3151N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi321 – 3211N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi333 – 3331N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi362 – 3621N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi1191 – 11911N-linked (GlcNAc...)Sequence Analysis
    Glycosylationi1205 – 12051N-linked (GlcNAc...)Sequence Analysis
    Modified residuei1328 – 13281Phosphoserine; by PKCBy similarity

    Post-translational modificationi

    Phosphorylation at Ser-1328 by PKC in a highly conserved cytoplasmic loop slows inactivation of the sodium channel and reduces peak sodium currents.By similarity

    Keywords - PTMi

    Glycoprotein, Phosphoprotein

    Proteomic databases

    PaxDbiP35499.
    PRIDEiP35499.

    PTM databases

    PhosphoSiteiP35499.

    Expressioni

    Gene expression databases

    ArrayExpressiP35499.
    BgeeiP35499.
    CleanExiHS_SCN4A.
    GenevestigatoriP35499.

    Organism-specific databases

    HPAiHPA053992.

    Interactioni

    Subunit structurei

    Muscle sodium channels contain an alpha subunit and a smaller beta subunit. Interacts with the PDZ domain of the syntrophin SNTA1, SNTB1 and SNTB2 By similarity.By similarity

    Protein-protein interaction databases

    BioGridi112234. 4 interactions.
    STRINGi9606.ENSP00000396320.

    Structurei

    3D structure databases

    ProteinModelPortaliP35499.
    SMRiP35499. Positions 131-272, 588-802, 1020-1296, 1346-1597, 1602-1754.
    ModBaseiSearch...
    MobiDBiSearch...

    Topological domain

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Topological domaini1 – 128128CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini151 – 1588ExtracellularSequence Analysis
    Topological domaini179 – 19012CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini211 – 2166ExtracellularSequence Analysis
    Topological domaini237 – 25216CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini267 – 423157ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini450 – 573124CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini598 – 60811ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini633 – 6408CytoplasmicSequence Analysis
    Topological domaini661 – 6666ExtracellularSequence Analysis
    Topological domaini687 – 70115CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini725 – 77652ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini803 – 1026224CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini1050 – 106314ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini1090 – 10956CytoplasmicSequence Analysis
    Topological domaini1117 – 11215ExtracellularSequence Analysis
    Topological domaini1144 – 116219CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini1185 – 126884ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini1296 – 134853CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini1373 – 138311ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini1408 – 14136CytoplasmicSequence Analysis
    Topological domaini1438 – 14469ExtracellularSequence Analysis
    Topological domaini1470 – 148415CytoplasmicSequence AnalysisAdd
    BLAST
    Topological domaini1508 – 157366ExtracellularSequence AnalysisAdd
    BLAST
    Topological domaini1599 – 1836238CytoplasmicSequence AnalysisAdd
    BLAST

    Transmembrane

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Transmembranei129 – 15022Helical; Name=S1 of repeat ISequence AnalysisAdd
    BLAST
    Transmembranei159 – 17820Helical; Name=S2 of repeat ISequence AnalysisAdd
    BLAST
    Transmembranei191 – 21020Helical; Name=S3 of repeat ISequence AnalysisAdd
    BLAST
    Transmembranei217 – 23620Helical; Voltage-sensor; Name=S4 of repeat ISequence AnalysisAdd
    BLAST
    Transmembranei253 – 26614Helical; Name=S5 of repeat ISequence AnalysisAdd
    BLAST
    Transmembranei424 – 44926Helical; Name=S6 of repeat ISequence AnalysisAdd
    BLAST
    Transmembranei574 – 59724Helical; Name=S1 of repeat IISequence AnalysisAdd
    BLAST
    Transmembranei609 – 63224Helical; Name=S2 of repeat IISequence AnalysisAdd
    BLAST
    Transmembranei641 – 66020Helical; Name=S3 of repeat IISequence AnalysisAdd
    BLAST
    Transmembranei667 – 68620Helical; Voltage-sensor; Name=S4 of repeat IISequence AnalysisAdd
    BLAST
    Transmembranei702 – 72423Helical; Name=S5 of repeat IISequence AnalysisAdd
    BLAST
    Transmembranei777 – 80226Helical; Name=S6 of repeat IISequence AnalysisAdd
    BLAST
    Transmembranei1027 – 104923Helical; Name=S1 of repeat IIISequence AnalysisAdd
    BLAST
    Transmembranei1064 – 108926Helical; Name=S2 of repeat IIISequence AnalysisAdd
    BLAST
    Transmembranei1096 – 111621Helical; Name=S3 of repeat IIISequence AnalysisAdd
    BLAST
    Transmembranei1122 – 114322Helical; Voltage-sensor; Name=S4 of repeat IIISequence AnalysisAdd
    BLAST
    Transmembranei1163 – 118422Helical; Name=S5 of repeat IIISequence AnalysisAdd
    BLAST
    Transmembranei1269 – 129527Helical; Name=S6 of repeat IIISequence AnalysisAdd
    BLAST
    Transmembranei1349 – 137224Helical; Name=S1 of repeat IVSequence AnalysisAdd
    BLAST
    Transmembranei1384 – 140724Helical; Name=S2 of repeat IVSequence AnalysisAdd
    BLAST
    Transmembranei1414 – 143724Helical; Name=S3 of repeat IVSequence AnalysisAdd
    BLAST
    Transmembranei1447 – 146923Helical; Voltage-sensor; Name=S4 of repeat IVSequence AnalysisAdd
    BLAST
    Transmembranei1485 – 150723Helical; Name=S5 of repeat IVSequence AnalysisAdd
    BLAST
    Transmembranei1574 – 159825Helical; Name=S6 of repeat IVSequence AnalysisAdd
    BLAST

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Repeati128 – 450323IAdd
    BLAST
    Repeati571 – 796226IIAdd
    BLAST
    Repeati1024 – 1281258IIIAdd
    BLAST
    Repeati1349 – 1595247IVAdd
    BLAST
    Domaini1727 – 175630IQPROSITE-ProRule annotationAdd
    BLAST

    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

    Contains 1 IQ domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Repeat, Transmembrane, Transmembrane helix

    Phylogenomic databases

    eggNOGiCOG1226.
    HOGENOMiHOG000231755.
    HOVERGENiHBG053100.
    InParanoidiP35499.
    KOiK04837.
    PhylomeDBiP35499.
    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.
    IPR028826. Na_channel_a4su.
    IPR008052. Na_channel_a4su_mammal.
    IPR001696. Na_channel_asu.
    IPR010526. Na_trans_assoc.
    [Graphical view]
    PANTHERiPTHR10037:SF193. PTHR10037:SF193. 1 hit.
    PfamiPF00520. Ion_trans. 4 hits.
    PF06512. Na_trans_assoc. 1 hit.
    [Graphical view]
    PRINTSiPR00170. NACHANNEL.
    PR01665. NACHANNEL4.
    SMARTiSM00015. IQ. 1 hit.
    [Graphical view]
    PROSITEiPS50096. IQ. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    P35499-1 [UniParc]FASTAAdd to Basket

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    MARPSLCTLV PLGPECLRPF TRESLAAIEQ RAVEEEARLQ RNKQMEIEEP     50
    ERKPRSDLEA GKNLPMIYGD PPPEVIGIPL EDLDPYYSNK KTFIVLNKGK 100
    AIFRFSATPA LYLLSPFSVV RRGAIKVLIH ALFSMFIMIT ILTNCVFMTM 150
    SDPPPWSKNV EYTFTGIYTF ESLIKILARG FCVDDFTFLR DPWNWLDFSV 200
    IMMAYLTEFV DLGNISALRT FRVLRALKTI TVIPGLKTIV GALIQSVKKL 250
    SDVMILTVFC LSVFALVGLQ LFMGNLRQKC VRWPPPFNDT NTTWYSNDTW 300
    YGNDTWYGNE MWYGNDSWYA NDTWNSHASW ATNDTFDWDA YISDEGNFYF 350
    LEGSNDALLC GNSSDAGHCP EGYECIKTGR NPNYGYTSYD TFSWAFLALF 400
    RLMTQDYWEN LFQLTLRAAG KTYMIFFVVI IFLGSFYLIN LILAVVAMAY 450
    AEQNEATLAE DKEKEEEFQQ MLEKFKKHQE ELEKAKAAQA LEGGEADGDP 500
    AHGKDCNGSL DTSQGEKGAP RQSSSGDSGI SDAMEELEEA HQKCPPWWYK 550
    CAHKVLIWNC CAPWLKFKNI IHLIVMDPFV DLGITICIVL NTLFMAMEHY 600
    PMTEHFDNVL TVGNLVFTGI FTAEMVLKLI AMDPYEYFQQ GWNIFDSIIV 650
    TLSLVELGLA NVQGLSVLRS FRLLRVFKLA KSWPTLNMLI KIIGNSVGAL 700
    GNLTLVLAII VFIFAVVGMQ LFGKSYKECV CKIALDCNLP RWHMHDFFHS 750
    FLIVFRILCG EWIETMWDCM EVAGQAMCLT VFLMVMVIGN LVVLNLFLAL 800
    LLSSFSADSL AASDEDGEMN NLQIAIGRIK LGIGFAKAFL LGLLHGKILS 850
    PKDIMLSLGE ADGAGEAGEA GETAPEDEKK EPPEEDLKKD NHILNHMGLA 900
    DGPPSSLELD HLNFINNPYL TIQVPIASEE SDLEMPTEEE TDTFSEPEDS 950
    KKPPQPLYDG NSSVCSTADY KPPEEDPEEQ AEENPEGEQP EECFTEACVQ 1000
    RWPCLYVDIS QGRGKKWWTL RRACFKIVEH NWFETFIVFM ILLSSGALAF 1050
    EDIYIEQRRV IRTILEYADK VFTYIFIMEM LLKWVAYGFK VYFTNAWCWL 1100
    DFLIVDVSII SLVANWLGYS ELGPIKSLRT LRALRPLRAL SRFEGMRVVV 1150
    NALLGAIPSI MNVLLVCLIF WLIFSIMGVN LFAGKFYYCI NTTTSERFDI 1200
    SEVNNKSECE SLMHTGQVRW LNVKVNYDNV GLGYLSLLQV ATFKGWMDIM 1250
    YAAVDSREKE EQPQYEVNLY MYLYFVIFII FGSFFTLNLF IGVIIDNFNQ 1300
    QKKKLGGKDI FMTEEQKKYY NAMKKLGSKK PQKPIPRPQN KIQGMVYDLV 1350
    TKQAFDITIM ILICLNMVTM MVETDNQSQL KVDILYNINM IFIIIFTGEC 1400
    VLKMLALRQY YFTVGWNIFD FVVVILSIVG LALSDLIQKY FVSPTLFRVI 1450
    RLARIGRVLR LIRGAKGIRT LLFALMMSLP ALFNIGLLLF LVMFIYSIFG 1500
    MSNFAYVKKE SGIDDMFNFE TFGNSIICLF EITTSAGWDG LLNPILNSGP 1550
    PDCDPNLENP GTSVKGDCGN PSIGICFFCS YIIISFLIVV NMYIAIILEN 1600
    FNVATEESSE PLGEDDFEMF YETWEKFDPD ATQFIAYSRL SDFVDTLQEP 1650
    LRIAKPNKIK LITLDLPMVP GDKIHCLDIL FALTKEVLGD SGEMDALKQT 1700
    MEEKFMAANP SKVSYEPITT TLKRKHEEVC AIKIQRAYRR HLLQRSMKQA 1750
    SYMYRHSHDG SGDDAPEKEG LLANTMSKMY GHENGNSSSP SPEEKGEAGD 1800
    AGPTMGLMPI SPSDTAWPPA PPPGQTVRPG VKESLV 1836
    Length:1,836
    Mass (Da):208,061
    Last modified:March 23, 2010 - v4
    Checksum:iFA9A6B81B7C2D50F
    GO

    Experimental Info

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Sequence conflicti10 – 112VP → AR in AAA60554. (PubMed:1315496)Curated
    Sequence conflicti371 – 3711E → K in AAA60554. (PubMed:1315496)Curated
    Sequence conflicti371 – 3711E → Q in AAB59624. (PubMed:1315496)Curated
    Sequence conflicti870 – 8701A → G in AAB59624. (PubMed:1315496)Curated
    Sequence conflicti1151 – 11522NA → KP in AAB59624. (PubMed:1315496)Curated

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti135 – 1351M → V.
    VAR_001560
    Natural varianti141 – 1411I → V in MYOSCN4A; causes a hyperpolarizing shift of the activation curve; enhances channel slow inactivation. 1 Publication
    VAR_054934
    Natural varianti222 – 2221R → W in HOKPP2. 1 Publication
    VAR_054935
    Natural varianti225 – 2251R → W in MYOSCN4A. 1 Publication
    VAR_065230
    Natural varianti246 – 2461S → L.1 Publication
    VAR_017785
    Natural varianti270 – 2701Q → K in PMC. 2 Publications
    VAR_054936
    Natural varianti445 – 4451V → M in MYOSCN4A. 3 Publications
    VAR_017786
    Natural varianti452 – 4521E → K in MYOSCN4A; variable phenotype ranging from mild to severe myotonia. 1 Publication
    VAR_054937
    Natural varianti524 – 5241S → G.3 Publications
    Corresponds to variant rs6504191 [ dbSNP | Ensembl ].
    VAR_001561
    Natural varianti559 – 5591N → D.2 Publications
    Corresponds to variant rs1047705 [ dbSNP | Ensembl ].
    VAR_017787
    Natural varianti669 – 6691R → H in HOKPP2. 2 Publications
    VAR_017788
    Natural varianti671 – 6711F → S in MYOSCN4A. 1 Publication
    VAR_054938
    Natural varianti672 – 6721R → C in HOKPP2. 2 Publications
    VAR_054939
    Natural varianti672 – 6721R → G in HOKPP2. 3 Publications
    VAR_017789
    Natural varianti672 – 6721R → H in HOKPP2. 3 Publications
    VAR_017790
    Natural varianti672 – 6721R → S in HOKPP2. 3 Publications
    VAR_017791
    Natural varianti675 – 6751R → G in NKPP. 1 Publication
    VAR_037104
    Natural varianti675 – 6751R → Q in NKPP. 2 Publications
    VAR_037105
    Natural varianti675 – 6751R → W in NKPP. 1 Publication
    VAR_037106
    Natural varianti693 – 6931I → T in PMC. 1 Publication
    VAR_065231
    Natural varianti704 – 7041T → M in HYPP and PMC. 3 Publications
    VAR_001562
    Natural varianti715 – 7151A → T in MYOSCN4A. 1 Publication
    VAR_054940
    Natural varianti781 – 7811V → I in HYPP and NKPP. 2 Publications
    Corresponds to variant rs62070884 [ dbSNP | Ensembl ].
    VAR_054941
    Natural varianti804 – 8041S → F in PMC. 1 Publication
    VAR_001563
    Natural varianti804 – 8041S → N in MYOSCN4A. 1 Publication
    VAR_054942
    Natural varianti861 – 8611A → D.
    VAR_001564
    Natural varianti1129 – 11291R → Q in NKPP and HOKPP2; detected in a family where three affected members manifested hypokalemic periodic paralysis whereas five other patients had normokalemic periodic paralysis. 1 Publication
    VAR_064987
    Natural varianti1132 – 11321R → Q in HOKPP2. 1 Publication
    VAR_054943
    Natural varianti1135 – 11351R → H in HOKPP2. 1 Publication
    VAR_054944
    Natural varianti1152 – 11521A → D in PMC. 1 Publication
    VAR_022341
    Natural varianti1156 – 11561A → T in PMC, MYOSCN4A and HYPP. 2 Publications
    VAR_001565
    Natural varianti1158 – 11581P → S in HOKPP2. 1 Publication
    VAR_017792
    Natural varianti1160 – 11601I → V in MYOSCN4A; acetazolamide-responsive myotonia. 1 Publication
    VAR_017793
    Natural varianti1293 – 12931V → I in PMC; without cold paralysis. 1 Publication
    VAR_001566
    Natural varianti1297 – 12971N → K in MYOSCN4A; unusually severe and lethal phenotype with neonatal onset. 1 Publication
    VAR_054945
    Natural varianti1306 – 13061G → A in PMC. 2 Publications
    VAR_001567
    Natural varianti1306 – 13061G → E in MYOSCN4A and PMC; severe. 4 Publications
    VAR_001568
    Natural varianti1306 – 13061G → V in MYOSCN4A and PMC. 3 Publications
    VAR_001569
    Natural varianti1310 – 13101I → N in MYOSCN4A. 1 Publication
    VAR_054946
    Natural varianti1313 – 13131T → M in PMC. 2 Publications
    VAR_001570
    Natural varianti1376 – 13761N → D.1 Publication
    Corresponds to variant rs2058194 [ dbSNP | Ensembl ].
    VAR_017794
    Natural varianti1433 – 14331L → R in PMC and HYPP. 1 Publication
    VAR_001571
    Natural varianti1436 – 14361L → P in PMC. 1 Publication
    VAR_054947
    Natural varianti1442 – 14421V → E in CMSAR. 1 Publication
    VAR_017795
    Natural varianti1448 – 14481R → C in PMC. 2 Publications
    VAR_001572
    Natural varianti1448 – 14481R → H in PMC. 2 Publications
    VAR_001573
    Natural varianti1448 – 14481R → L in PMC. 1 Publication
    VAR_054948
    Natural varianti1456 – 14561G → E in PMC. 3 Publications
    VAR_037107
    Natural varianti1473 – 14731F → S in PMC; accelerates deactivation from the inactivated state and enhances the remobilization of gating charge. 1 Publication
    VAR_054949
    Natural varianti1476 – 14761M → I in MYOSCN4A; highly variable severity. 2 Publications
    VAR_054950
    Natural varianti1481 – 14811A → D in MYOSCN4A; fluctuating cold-induced and exercise-induced stiffness. 1 Publication
    VAR_054951
    Natural varianti1589 – 15891V → M in PMC. 2 Publications
    VAR_001574
    Natural varianti1592 – 15921M → V in HYPP and NKPP. 2 Publications
    VAR_001575
    Natural varianti1705 – 17051F → I in PMC; increases the extent of charge immobilization in response to strong depolarization.
    VAR_054952

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M81758 mRNA. Translation: AAA60554.1.
    L04236
    , L04216, L04217, L04218, L04219, L04220, L04221, L04222, L04223, L04224, L04225, L04226, L04227, L04228, L04229, L04230, L04231, L04232, L04233, L04234, L04235 Genomic DNA. Translation: AAB59624.1.
    AY212253 mRNA. Translation: AAO83647.1.
    L01983
    , L01962, L01963, L01964, L01965, L01966, L01967, L01968, L01969, L01970, L01971, L01972, L01973, L01974, L01975, L01976, L01977, L01978, L01979, L01980, L01981, L01982 Genomic DNA. Translation: AAA75557.1. Sequence problems.
    AC127029 Genomic DNA. No translation available.
    S82622 Genomic DNA. Translation: AAB21450.2.
    CCDSiCCDS45761.1.
    PIRiI51964.
    I54323.
    I64893.
    JS0648.
    RefSeqiNP_000325.4. NM_000334.4.
    XP_005257623.1. XM_005257566.2.
    UniGeneiHs.46038.

    Genome annotation databases

    GeneIDi6329.
    KEGGihsa:6329.
    UCSCiuc002jds.1. human.

    Polymorphism databases

    DMDMi292495096.

    Keywords - Coding sequence diversityi

    Polymorphism

    Cross-referencesi

    Web resourcesi

    Wikipedia

    SCN4A entry

    Sequence databases

    Select the link destinations:
    EMBL
    GenBank
    DDBJ
    Links Updated
    M81758 mRNA. Translation: AAA60554.1 .
    L04236
    , L04216 , L04217 , L04218 , L04219 , L04220 , L04221 , L04222 , L04223 , L04224 , L04225 , L04226 , L04227 , L04228 , L04229 , L04230 , L04231 , L04232 , L04233 , L04234 , L04235 Genomic DNA. Translation: AAB59624.1 .
    AY212253 mRNA. Translation: AAO83647.1 .
    L01983
    , L01962 , L01963 , L01964 , L01965 , L01966 , L01967 , L01968 , L01969 , L01970 , L01971 , L01972 , L01973 , L01974 , L01975 , L01976 , L01977 , L01978 , L01979 , L01980 , L01981 , L01982 Genomic DNA. Translation: AAA75557.1 . Sequence problems.
    AC127029 Genomic DNA. No translation available.
    S82622 Genomic DNA. Translation: AAB21450.2 .
    CCDSi CCDS45761.1.
    PIRi I51964.
    I54323.
    I64893.
    JS0648.
    RefSeqi NP_000325.4. NM_000334.4.
    XP_005257623.1. XM_005257566.2.
    UniGenei Hs.46038.

    3D structure databases

    ProteinModelPortali P35499.
    SMRi P35499. Positions 131-272, 588-802, 1020-1296, 1346-1597, 1602-1754.
    ModBasei Search...
    MobiDBi Search...

    Protein-protein interaction databases

    BioGridi 112234. 4 interactions.
    STRINGi 9606.ENSP00000396320.

    Chemistry

    ChEMBLi CHEMBL2331043.
    DrugBanki DB00555. Lamotrigine.
    GuidetoPHARMACOLOGYi 581.

    Protein family/group databases

    TCDBi 1.A.1.10.4. the voltage-gated ion channel (vic) superfamily.

    PTM databases

    PhosphoSitei P35499.

    Polymorphism databases

    DMDMi 292495096.

    Proteomic databases

    PaxDbi P35499.
    PRIDEi P35499.

    Protocols and materials databases

    DNASUi 6329.
    Structural Biology Knowledgebase Search...

    Genome annotation databases

    GeneIDi 6329.
    KEGGi hsa:6329.
    UCSCi uc002jds.1. human.

    Organism-specific databases

    CTDi 6329.
    GeneCardsi GC17M062015.
    GeneReviewsi SCN4A.
    H-InvDB HIX0039131.
    HGNCi HGNC:10591. SCN4A.
    HPAi HPA053992.
    MIMi 168300. phenotype.
    170500. phenotype.
    603967. gene.
    608390. phenotype.
    613345. phenotype.
    614198. phenotype.
    neXtProti NX_P35499.
    Orphaneti 99736. Acetazolamide-responsive myotonia.
    682. Hyperkalemic periodic paralysis.
    681. Hypokalemic periodic paralysis.
    99734. Myotonia fluctuans.
    99735. Myotonia permanens.
    684. Paramyotonia congenita of Von Eulenburg.
    98913. Postsynaptic congenital myasthenic syndromes.
    PharmGKBi PA35006.
    GenAtlasi Search...

    Phylogenomic databases

    eggNOGi COG1226.
    HOGENOMi HOG000231755.
    HOVERGENi HBG053100.
    InParanoidi P35499.
    KOi K04837.
    PhylomeDBi P35499.
    TreeFami TF323985.

    Enzyme and pathway databases

    Reactomei REACT_22266. Interaction between L1 and Ankyrins.

    Miscellaneous databases

    GeneWikii Nav1.4.
    GenomeRNAii 6329.
    NextBioi 24570.
    PROi P35499.
    SOURCEi Search...

    Gene expression databases

    ArrayExpressi P35499.
    Bgeei P35499.
    CleanExi HS_SCN4A.
    Genevestigatori P35499.

    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.
    IPR028826. Na_channel_a4su.
    IPR008052. Na_channel_a4su_mammal.
    IPR001696. Na_channel_asu.
    IPR010526. Na_trans_assoc.
    [Graphical view ]
    PANTHERi PTHR10037:SF193. PTHR10037:SF193. 1 hit.
    Pfami PF00520. Ion_trans. 4 hits.
    PF06512. Na_trans_assoc. 1 hit.
    [Graphical view ]
    PRINTSi PR00170. NACHANNEL.
    PR01665. NACHANNEL4.
    SMARTi SM00015. IQ. 1 hit.
    [Graphical view ]
    PROSITEi PS50096. IQ. 1 hit.
    [Graphical view ]
    ProtoNeti Search...

    Publicationsi

    1. "Primary structure of the adult human skeletal muscle voltage-dependent sodium channel."
      George A.L. Jr., Komisarof J., Kallen R.G., Barchi R.L.
      Ann. Neurol. 31:131-137(1992) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA], VARIANTS GLY-524; ASP-559 AND ASP-1376.
      Tissue: Skeletal muscle.
    2. "Sequence and genomic structure of the human adult skeletal muscle sodium channel alpha subunit gene on 17q."
      Wang J., Rojas C.V., Zhou J., Schwartz L.S., Nicholas H., Hoffmann E.P.
      Biochem. Biophys. Res. Commun. 182:794-801(1992) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [MRNA].
    3. Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT CMSAR GLU-1442, VARIANTS LEU-246; GLY-524 AND ASP-559.
    4. "The genomic structure of the human skeletal muscle sodium channel gene."
      McClatchey A.I., Lin C.S., Wang J., Hoffman E.P., Rojas C.V., Gusella J.F.
      Hum. Mol. Genet. 1:521-527(1992) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANT GLY-524.
    5. "DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
      Zody M.C., Garber M., Adams D.J., Sharpe T., Harrow J., Lupski J.R., Nicholson C., Searle S.M., Wilming L., Young S.K., Abouelleil A., Allen N.R., Bi W., Bloom T., Borowsky M.L., Bugalter B.E., Butler J., Chang J.L.
      , Chen C.-K., Cook A., Corum B., Cuomo C.A., de Jong P.J., DeCaprio D., Dewar K., FitzGerald M., Gilbert J., Gibson R., Gnerre S., Goldstein S., Grafham D.V., Grocock R., Hafez N., Hagopian D.S., Hart E., Norman C.H., Humphray S., Jaffe D.B., Jones M., Kamal M., Khodiyar V.K., LaButti K., Laird G., Lehoczky J., Liu X., Lokyitsang T., Loveland J., Lui A., Macdonald P., Major J.E., Matthews L., Mauceli E., McCarroll S.A., Mihalev A.H., Mudge J., Nguyen C., Nicol R., O'Leary S.B., Osoegawa K., Schwartz D.C., Shaw-Smith C., Stankiewicz P., Steward C., Swarbreck D., Venkataraman V., Whittaker C.A., Yang X., Zimmer A.R., Bradley A., Hubbard T., Birren B.W., Rogers J., Lander E.S., Nusbaum C.
      Nature 440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
    6. "Temperature-sensitive mutations in the III-IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita."
      McClatchey A.I., van den Bergh P., Pericak-Vance M.A., Raskind W., Verellen C., McKenna-Yasek D., Rao K., Haines J.L., Bird T., Brown R.H. Jr., Gusella J.F.
      Cell 68:769-774(1992) [PubMed] [Europe PMC] [Abstract]
      Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1305-1339, VARIANTS PMC VAL-1306 AND MET-1313.
    7. "Identification of a mutation in the gene causing hyperkalemic periodic paralysis."
      Ptacek L.J., George A.L. Jr., Griggs R.C., Tawil R., Kallen R.G., Barchi R.L., Robertson M., Leppert M.F.
      Cell 67:1021-1027(1991) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT HYPP MET-704.
    8. "A Met-to-Val mutation in the skeletal muscle Na+ channel alpha-subunit in hyperkalaemic periodic paralysis."
      Rojas C.V., Wang J., Schwartz L.S., Hoffman E.P., Powell B.R., Brown R.H. Jr.
      Nature 354:387-389(1991) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT HYPP VAL-1592.
    9. "Novel mutations in families with unusual and variable disorders of the skeletal muscle sodium channel."
      McClatchey A.I., McKenna-Yasek D., Cros D., Worthen H.G., Kuncl R.W., Desilva S.M., Cornblath D.R., Gusella J.F., Brown R.H. Jr.
      Nat. Genet. 2:148-152(1992) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS PMC PHE-804 AND THR-1156.
    10. "Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita."
      Ptacek L.J., George A.L. Jr., Barchi R.L., Griggs R.C., Riggs J.E., Robertson M., Leppert M.F.
      Neuron 8:891-897(1992) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS PMC CYS-1448 AND HIS-1448.
    11. "Sodium channel mutations in paramyotonia congenita and hyperkalemic periodic paralysis."
      Ptacek L.J., Gouw L., Kwiecinski H., McManis P., Mendell J.R., Barohn R.J., George A.L. Jr., Barchi R.L., Robertson M., Leppert M.F.
      Ann. Neurol. 33:300-307(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT PMC/HYPP ARG-1433.
    12. "Human sodium channel myotonia: slowed channel inactivation due to substitutions for a glycine within the III-IV linker."
      Lerche H., Heine R., Pika U., George A.L. Jr., Mitrovic N., Browatzki M., Weiss T., Rivet-Bastide M., Franke C., Lomonaco M., Ricker K., Lehmann-Horn F.
      J. Physiol. (Lond.) 470:13-22(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS PMC ALA-1306; GLU-1306 AND VAL-1306.
    13. "A novel SCN4A mutation causing myotonia aggravated by cold and potassium."
      Heine R., Pika U., Lehmann-Horn F.
      Hum. Mol. Genet. 2:1349-1353(1993) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT PMC MET-1589.
    14. "Sodium channel mutations in acetazolamide-responsive myotonia congenita, paramyotonia congenita, and hyperkalemic periodic paralysis."
      Ptacek L.J., Tawil R., Griggs R.C., Meola G., McManis P., Barohn R.J., Mendell J.R., Harris C., Spitzer R., Santiago F., Leppert M.F.
      Neurology 44:1500-1503(1994) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT MYOSCN4A VAL-1160.
    15. "Hyperkalemic periodic paralysis with cardiac dysrhythmia: a novel sodium channel mutation?"
      Baquero J.L., Ayala R.A., Wang J., Curless R.G., Feero W.G., Hoffman E.P., Ebeid M.R.
      Ann. Neurol. 37:408-411(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT HYPP ILE-781.
    16. "Paramyotonia congenita without paralysis on exposure to cold: a novel mutation in the SCN4A gene (Val1293Ile)."
      Koch M.C., Baumbach K., George A.L. Jr., Ricker K.
      NeuroReport 6:2001-2004(1995) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT PMC ILE-1293.
    17. "A novel muscle sodium channel mutation causes painful congenital myotonia."
      Rosenfeld J., Sloan-Brown K., George A.L. Jr.
      Ann. Neurol. 42:811-814(1997) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT MYOSCN4A MET-445.
    18. "A novel mutation in the gene for the adult skeletal muscle sodium channel alpha-subunit (SCN4A) that causes paramyotonia congenita of von Eulenburg."
      Sasaki R., Takano H., Kamakura K., Kaida K., Hirata A., Saito M., Tanaka H., Kuzuhara S., Tsuji S.
      Arch. Neurol. 56:692-696(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT PMC GLU-1456.
    19. "Functional consequences of a domain 1/S6 segment sodium channel mutation associated with painful congenital myotonia."
      Wang D.W., VanDeCarr D., Ruben P.C., George A.L. Jr., Bennett P.B.
      FEBS Lett. 448:231-234(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT MYOSCN4A MET-445.
    20. "A novel sodium channel mutation in a family with hypokalemic periodic paralysis."
      Bulman D.E., Scoggan K.A., van Oene M.D., Nicolle M.W., Hahn A.F., Tollar L.L., Ebers G.C.
      Neurology 53:1932-1936(1999) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT HOKPP2 HIS-669.
    21. "Clinical, electrophysiological, and molecular genetic studies in a new family with paramyotonia congenita."
      Davies N.P., Eunson L.H., Gregory R.P., Mills K.R., Morrison P.J., Hanna M.G.
      J. Neurol. Neurosurg. Psych. 68:504-507(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT PMC GLU-1456.
    22. "Temperature-sensitive sodium channelopathy with heat-induced myotonia and cold-induced paralysis."
      Sugiura Y., Aoki T., Sugiyama Y., Hida C., Ogata M., Yamamoto T.
      Neurology 54:2179-2181(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT HOKPP2 SER-1158.
    23. "Voltage-sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced current."
      Jurkat-Rott K., Mitrovic N., Hang C., Kouzmekine A., Iaizzo P., Herzog J., Lerche H., Nicole S., Vale-Santos J., Chauveau D., Fontaine B., Lehmann-Horn F.
      Proc. Natl. Acad. Sci. U.S.A. 97:9549-9554(2000) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS HOKPP2 GLY-672 AND HIS-672.
    24. "Sodium channel inactivation defects are associated with acetazolamide-exacerbated hypokalemic periodic paralysis."
      Bendahhou S., Cummins T.R., Griggs R.C., Fu Y.H., Ptacek L.J.
      Ann. Neurol. 50:417-420(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT HOKPP2 SER-672.
    25. "Sodium channel gene mutations in hypokalemic periodic paralysis: an uncommon cause in the UK."
      Davies N.P., Eunson L.H., Samuel M., Hanna M.G.
      Neurology 57:1323-1325(2001) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT HOKPP2 SER-672.
    26. "New mutations of SCN4A cause a potassium-sensitive normokalemic periodic paralysis."
      Vicart S., Sternberg D., Fournier E., Ochsner F., Laforet P., Kuntzer T., Eymard B., Hainque B., Fontaine B.
      Neurology 63:2120-2127(2004) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS NKPP GLY-675; GLN-675 AND TRP-675.
    27. "A1152D mutation of the Na+ channel causes paramyotonia congenita and emphasizes the role of DIII/S4-S5 linker in fast inactivation."
      Bouhours M., Luce S., Sternberg D., Willer J.-C., Fontaine B., Tabti N.
      J. Physiol. (Lond.) 565:415-427(2005) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT PMC ASP-1152.
    28. "Cold extends electromyography distinction between ion channel mutations causing myotonia."
      Fournier E., Viala K., Gervais H., Sternberg D., Arzel-Hezode M., Laforet P., Eymard B., Tabti N., Willer J.-C., Vial C., Fontaine B.
      Ann. Neurol. 60:356-365(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT PMC LYS-270, VARIANTS MYOSCN4A THR-715; ASN-804 AND ASN-1310.
    29. "Autosomal dominant monosymptomatic myotonia permanens."
      Colding-Joergensen E., Duno M., Vissing J.
      Neurology 67:153-155(2006) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT MYOSCN4A GLU-1306.
    30. "The genotype and clinical phenotype of Korean patients with familial hypokalemic periodic paralysis."
      Kim J.-B., Kim M.-H., Lee S.J., Kim D.-J., Lee B.C.
      J. Korean Med. Sci. 22:946-951(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS HOKPP2 HIS-669; CYS-672 AND GLY-672.
    31. "A large German kindred with cold-aggravated myotonia and a heterozygous A1481D mutation in the SCN4A gene."
      Schoser B.G.H., Schroeder J.M., Grimm T., Sternberg D., Kress W.
      Muscle Nerve 35:599-606(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT MYOSCN4A ASP-1481.
    32. "A novel founder SCN4A mutation causes painful cold-induced myotonia in French-Canadians."
      Rossignol E., Mathieu J., Thiffault I., Tetreault M., Dicaire M.J., Chrestian N., Dupre N., Puymirat J., Brais B.
      Neurology 69:1937-1941(2007) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT MYOSCN4A ILE-1476.
    33. "Severe neonatal non-dystrophic myotonia secondary to a novel mutation of the voltage-gated sodium channel (SCN4A) gene."
      Gay S., Dupuis D., Faivre L., Masurel-Paulet A., Labenne M., Colombani M., Soichot P., Huet F., Hainque B., Sternberg D., Fontaine B., Gouyon J.B., Thauvin-Robinet C.
      Am. J. Med. Genet. A 146:380-383(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT MYOSCN4A LYS-1297.
    34. "Mutations of sodium channel alpha-subunit genes in Chinese patients with normokalemic periodic paralysis."
      Xiuhai G., Weiping W., Ke Z., Hongbin W., Yiling S., Yanling M.
      Cell. Mol. Neurobiol. 28:653-661(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS NKPP GLN-675; ILE-781 AND VAL-1592.
    35. "Differential effects of paramyotonia congenita mutations F1473S and F1705I on sodium channel gating."
      Groome J.R., Larsen M.F., Coonts A.
      Channels 2:39-50(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: CHARACTERIZATION OF VARIANTS PMC SER-1473 AND ILE-1705.
    36. "What causes paramyotonia in the United Kingdom? Common and new SCN4A mutations revealed."
      Matthews E., Tan S.V., Fialho D., Sweeney M.G., Sud R., Haworth A., Stanley E., Cea G., Davis M.B., Hanna M.G.
      Neurology 70:50-53(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS PMC LYS-270; MET-704; ALA-1306; GLU-1306; MET-1313; PRO-1436; CYS-1448; HIS-1448; LEU-1448; GLU-1456; SER-1473 AND MET-1589.
    37. "A novel dominant mutation of the Nav1.4 alpha-subunit domain I leading to sodium channel myotonia."
      Petitprez S., Tiab L., Chen L., Kappeler L., Rosler K.M., Schorderet D., Abriel H., Burgunder J.M.
      Neurology 71:1669-1675(2008) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT MYOSCN4A VAL-141, CHARACTERIZATION OF VARIANT MYOSCN4A VAL-141.
    38. "Clinical diversity of SCN4A-mutation-associated skeletal muscle sodium channelopathy."
      Lee S.C., Kim H.S., Park Y.E., Choi Y.C., Park K.H., Kim D.S.
      J. Clin. Neurol. 5:186-191(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS MYOSCN4A TRP-225; THR-1156 AND GLU-1306, VARIANT PMC THR-693, VARIANT HYPP THR-1156.
    39. "Clinical, electrophysiologic, and genetic study of non-dystrophic myotonia in French-Canadians."
      Dupre N., Chrestian N., Bouchard J.-P., Rossignol E., Brunet D., Sternberg D., Brais B., Mathieu J., Puymirat J.
      Neuromuscul. Disord. 19:330-334(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS MYOSCN4A MET-445; LYS-452; SER-671; VAL-1306 AND ILE-1476.
    40. "Voltage sensor charge loss accounts for most cases of hypokalemic periodic paralysis."
      Matthews E., Labrum R., Sweeney M.G., Sud R., Haworth A., Chinnery P.F., Meola G., Schorge S., Kullmann D.M., Davis M.B., Hanna M.G.
      Neurology 72:1544-1547(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANTS HOKPP2 TRP-222; CYS-672; GLY-672; HIS-672; SER-672; GLN-1132 AND HIS-1135.
    41. "Tubular aggregates in paralysis periodica paramyotonica with T704M mutation of SCN4A."
      Luan X., Chen B., Liu Y., Zheng R., Zhang W., Yuan Y.
      Neuropathology 29:579-584(2009) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT PMC MET-704.
    42. "Both hypokalaemic and normokalaemic periodic paralysis in different members of a single family with novel R1129Q mutation in SCN4A gene."
      Hong D., Luan X., Chen B., Zheng R., Zhang W., Wang Z., Yuan Y.
      J. Neurol. Neurosurg. Psych. 81:703-704(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT NKPP GLN-1129, VARIANT HOKPP2 GLN-1129.
    43. "Hypokalemic periodic paralysis due to the SCN4A R672H mutation in a Turkish family."
      Incecik F., Herguner M.O., Altunbasak S., Lehman-Horn F.
      Turk. J. Pediatr. 52:409-410(2010) [PubMed] [Europe PMC] [Abstract]
      Cited for: VARIANT HOKPP2 HIS-672.

    Entry informationi

    Entry nameiSCN4A_HUMAN
    AccessioniPrimary (citable) accession number: P35499
    Secondary accession number(s): Q15478, Q16447, Q7Z6B1
    Entry historyi
    Integrated into UniProtKB/Swiss-Prot: June 1, 1994
    Last sequence update: March 23, 2010
    Last modified: October 1, 2014
    This is version 152 of the entry and version 4 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 17
      Human chromosome 17: 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