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P35499

- SCN4A_HUMAN

UniProt

P35499 - SCN4A_HUMAN

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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

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
Complete GO annotation...

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
Complete GO annotation...

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

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 128128Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei129 – 15022Helical; Name=S1 of repeat I; Reviewed prediction
Add
BLAST
Topological domaini151 – 1588Extracellular Reviewed prediction
Transmembranei159 – 17820Helical; Name=S2 of repeat I; Reviewed prediction
Add
BLAST
Topological domaini179 – 19012Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei191 – 21020Helical; Name=S3 of repeat I; Reviewed prediction
Add
BLAST
Topological domaini211 – 2166Extracellular Reviewed prediction
Transmembranei217 – 23620Helical; Voltage-sensor; Name=S4 of repeat I; Reviewed prediction
Add
BLAST
Topological domaini237 – 25216Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei253 – 26614Helical; Name=S5 of repeat I; Reviewed prediction
Add
BLAST
Topological domaini267 – 423157Extracellular Reviewed prediction
Add
BLAST
Transmembranei424 – 44926Helical; Name=S6 of repeat I; Reviewed prediction
Add
BLAST
Topological domaini450 – 573124Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei574 – 59724Helical; Name=S1 of repeat II; Reviewed prediction
Add
BLAST
Topological domaini598 – 60811Extracellular Reviewed prediction
Add
BLAST
Transmembranei609 – 63224Helical; Name=S2 of repeat II; Reviewed prediction
Add
BLAST
Topological domaini633 – 6408Cytoplasmic Reviewed prediction
Transmembranei641 – 66020Helical; Name=S3 of repeat II; Reviewed prediction
Add
BLAST
Topological domaini661 – 6666Extracellular Reviewed prediction
Transmembranei667 – 68620Helical; Voltage-sensor; Name=S4 of repeat II; Reviewed prediction
Add
BLAST
Topological domaini687 – 70115Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei702 – 72423Helical; Name=S5 of repeat II; Reviewed prediction
Add
BLAST
Topological domaini725 – 77652Extracellular Reviewed prediction
Add
BLAST
Transmembranei777 – 80226Helical; Name=S6 of repeat II; Reviewed prediction
Add
BLAST
Topological domaini803 – 1026224Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei1027 – 104923Helical; Name=S1 of repeat III; Reviewed prediction
Add
BLAST
Topological domaini1050 – 106314Extracellular Reviewed prediction
Add
BLAST
Transmembranei1064 – 108926Helical; Name=S2 of repeat III; Reviewed prediction
Add
BLAST
Topological domaini1090 – 10956Cytoplasmic Reviewed prediction
Transmembranei1096 – 111621Helical; Name=S3 of repeat III; Reviewed prediction
Add
BLAST
Topological domaini1117 – 11215Extracellular Reviewed prediction
Transmembranei1122 – 114322Helical; Voltage-sensor; Name=S4 of repeat III; Reviewed prediction
Add
BLAST
Topological domaini1144 – 116219Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei1163 – 118422Helical; Name=S5 of repeat III; Reviewed prediction
Add
BLAST
Topological domaini1185 – 126884Extracellular Reviewed prediction
Add
BLAST
Transmembranei1269 – 129527Helical; Name=S6 of repeat III; Reviewed prediction
Add
BLAST
Topological domaini1296 – 134853Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei1349 – 137224Helical; Name=S1 of repeat IV; Reviewed prediction
Add
BLAST
Topological domaini1373 – 138311Extracellular Reviewed prediction
Add
BLAST
Transmembranei1384 – 140724Helical; Name=S2 of repeat IV; Reviewed prediction
Add
BLAST
Topological domaini1408 – 14136Cytoplasmic Reviewed prediction
Transmembranei1414 – 143724Helical; Name=S3 of repeat IV; Reviewed prediction
Add
BLAST
Topological domaini1438 – 14469Extracellular Reviewed prediction
Transmembranei1447 – 146923Helical; Voltage-sensor; Name=S4 of repeat IV; Reviewed prediction
Add
BLAST
Topological domaini1470 – 148415Cytoplasmic Reviewed prediction
Add
BLAST
Transmembranei1485 – 150723Helical; Name=S5 of repeat IV; Reviewed prediction
Add
BLAST
Topological domaini1508 – 157366Extracellular Reviewed prediction
Add
BLAST
Transmembranei1574 – 159825Helical; Name=S6 of repeat IV; Reviewed prediction
Add
BLAST
Topological domaini1599 – 1836238Cytoplasmic Reviewed prediction
Add
BLAST

GO - Cellular componenti

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

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.
Note: The disease is caused by mutations affecting the gene represented in this entry.15 Publications
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. 2 Publications
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. 1 Publication
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.
Note: The disease is caused by mutations affecting the gene represented in this entry.9 Publications
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.
Note: The disease is caused by mutations affecting the gene represented in this entry.4 Publications
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.
Note: The disease is caused by mutations affecting the gene represented in this entry.3 Publications
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.
Note: The disease is caused by mutations affecting the gene represented in this entry.11 Publications
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.
Note: The disease is caused by mutations affecting the gene represented in this entry.1 Publication
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 alpha
PRO_0000048495Add
BLAST

Amino acid modifications

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

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.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Repeati128 – 450323I
Add
BLAST
Repeati571 – 796226II
Add
BLAST
Repeati1024 – 1281258III
Add
BLAST
Repeati1349 – 1595247IV
Add
BLAST
Domaini1727 – 175630IQ
Add
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.

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

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. 2 Publications
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. 1 Publication
VAR_054952

Sequence conflict

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti10 – 112VP → AR in AAA60554. 1 Publication
Sequence conflicti371 – 3711E → K in AAA60554. 1 Publication
Sequence conflicti371 – 3711E → Q in AAB59624. 1 Publication
Sequence conflicti870 – 8701A → G in AAB59624. 1 Publication
Sequence conflicti1151 – 11522NA → KP in AAB59624. 1 Publication

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

EnsembliENST00000435607; ENSP00000396320; ENSG00000007314.
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...

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

Ensembli ENST00000435607 ; ENSP00000396320 ; ENSG00000007314 .
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

« Hide 'large scale' publications
  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: September 3, 2014
This is version 151 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

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