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P08246

- ELNE_HUMAN

UniProt

P08246 - ELNE_HUMAN

Protein

Neutrophil elastase

Gene

ELANE

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli
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    • History
      Entry version 163 (01 Oct 2014)
      Sequence version 1 (01 Aug 1988)
      Previous versions | rss
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    Functioni

    Modifies the functions of natural killer cells, monocytes and granulocytes. Inhibits C5a-dependent neutrophil enzyme release and chemotaxis.1 Publication

    Catalytic activityi

    Hydrolysis of proteins, including elastin. Preferential cleavage: Val-|-Xaa > Ala-|-Xaa.

    Sites

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Active sitei70 – 701Charge relay system
    Active sitei117 – 1171Charge relay system
    Active sitei202 – 2021Charge relay system

    GO - Molecular functioni

    1. cytokine binding Source: UniProtKB
    2. endopeptidase activity Source: UniProtKB
    3. heparin binding Source: MGI
    4. peptidase activity Source: MGI
    5. protease binding Source: BHF-UCL
    6. protein binding Source: UniProtKB
    7. RNA polymerase II transcription corepressor activity Source: UniProt
    8. serine-type endopeptidase activity Source: Ensembl

    GO - Biological processi

    1. acute inflammatory response to antigenic stimulus Source: Ensembl
    2. cellular calcium ion homeostasis Source: UniProtKB
    3. collagen catabolic process Source: Reactome
    4. defense response to bacterium Source: UniProtKB
    5. extracellular matrix disassembly Source: Reactome
    6. extracellular matrix organization Source: Reactome
    7. leukocyte migration Source: Ensembl
    8. negative regulation of chemokine biosynthetic process Source: UniProtKB
    9. negative regulation of chemotaxis Source: UniProtKB
    10. negative regulation of growth of symbiont in host Source: Ensembl
    11. negative regulation of inflammatory response Source: UniProtKB
    12. negative regulation of interleukin-8 biosynthetic process Source: UniProtKB
    13. negative regulation of transcription from RNA polymerase II promoter Source: UniProt
    14. neutrophil mediated killing of fungus Source: Ensembl
    15. phagocytosis Source: Ensembl
    16. positive regulation of immune response Source: Ensembl
    17. positive regulation of interleukin-8 biosynthetic process Source: UniProtKB
    18. positive regulation of MAP kinase activity Source: UniProtKB
    19. positive regulation of smooth muscle cell proliferation Source: UniProtKB
    20. protein catabolic process Source: UniProtKB
    21. proteolysis Source: MGI
    22. response to lipopolysaccharide Source: Ensembl
    23. response to UV Source: UniProtKB
    24. response to yeast Source: Ensembl

    Keywords - Molecular functioni

    Hydrolase, Protease, Serine protease

    Enzyme and pathway databases

    BRENDAi3.4.21.37. 2681.
    ReactomeiREACT_118572. Degradation of the extracellular matrix.
    REACT_118682. Activation of Matrix Metalloproteinases.
    REACT_150401. Collagen degradation.
    REACT_201925. Degradation of the extracellular matrix.
    SABIO-RKP08246.

    Protein family/group databases

    MEROPSiS01.131.

    Names & Taxonomyi

    Protein namesi
    Recommended name:
    Neutrophil elastase (EC:3.4.21.37)
    Alternative name(s):
    Bone marrow serine protease
    Elastase-2
    Human leukocyte elastase
    Short name:
    HLE
    Medullasin
    PMN elastase
    Gene namesi
    Name:ELANE
    Synonyms:ELA2
    OrganismiHomo sapiens (Human)
    Taxonomic identifieri9606 [NCBI]
    Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
    ProteomesiUP000005640: Chromosome 19

    Organism-specific databases

    HGNCiHGNC:3309. ELANE.

    Subcellular locationi

    GO - Cellular componenti

    1. cell surface Source: UniProtKB
    2. cytoplasm Source: UniProt
    3. extracellular region Source: UniProtKB
    4. extracellular vesicular exosome Source: UniProt
    5. secretory granule Source: MGI
    6. transcriptional repressor complex Source: UniProt

    Pathology & Biotechi

    Involvement in diseasei

    Cyclic haematopoiesis (CH) [MIM:162800]: Autosomal dominant disease in which blood-cell production from the bone marrow oscillates with 21-day periodicity. Circulating neutrophils vary between almost normal numbers and zero. During intervals of neutropenia, affected individuals are at risk for opportunistic infection. Monocytes, platelets, lymphocytes and reticulocytes also cycle with the same frequency.4 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti43 – 431F → L in SCN1 and CH. 2 Publications
    VAR_070697
    Natural varianti45 – 451V → L in CH. 1 Publication
    VAR_070700
    Natural varianti46 – 461S → F in CH and SCN1. 2 Publications
    VAR_070702
    Natural varianti53 – 531H → Q in CH.
    VAR_070707
    Natural varianti61 – 611A → V in SCN1 and CH. 2 Publications
    VAR_070715
    Natural varianti81 – 811R → P in SCN1 and CH. 3 Publications
    VAR_070723
    Natural varianti82 – 821V → M in SCN1 and CH. 2 Publications
    VAR_070724
    Natural varianti97 – 971Q → L in CH. 1 Publication
    VAR_070727
    Natural varianti104 – 1041I → N in CH. 1 Publication
    VAR_070731
    Natural varianti120 – 1201I → F in SCN1 and CH. 1 Publication
    VAR_070733
    Natural varianti126 – 1261S → L in SCN1 and CH. 5 Publications
    Corresponds to variant rs137854450 [ dbSNP | Ensembl ].
    VAR_038619
    Natural varianti139 – 1391P → L in SCN1 and CH. 3 Publications
    Corresponds to variant rs28929493 [ dbSNP | Ensembl ].
    VAR_038620
    Natural varianti143 – 1431R → H in CH; unknown pathological significance. 1 Publication
    Corresponds to variant rs200993994 [ dbSNP | Ensembl ].
    VAR_070746
    Natural varianti190 – 19910Missing in SCN1 and CH.
    VAR_038622
    Natural varianti203 – 2031G → C in SCN1 and CH. 2 Publications
    VAR_070755
    Natural varianti206 – 2061L → F in CH. 1 Publication
    VAR_070757
    Natural varianti209 – 2091N → I in CH. 1 Publication
    VAR_070760
    Natural varianti210 – 2101G → W in CH. 1 Publication
    VAR_070761
    Natural varianti219 – 2191V → I in CH and SCN1; unknown pathological significance. 3 Publications
    Corresponds to variant rs17216656 [ dbSNP | Ensembl ].
    VAR_019237
    Natural varianti220 – 2201R → Q in CH and SCN1; loss of interaction with NOTCH2NL and loss of NOTCH2NL and NOTCH2 proteolytic cleavage. 3 Publications
    VAR_070763
    Neutropenia, severe congenital 1, autosomal dominant (SCN1) [MIM:202700]: A disorder of hematopoiesis characterized by maturation arrest of granulopoiesis at the level of promyelocytes with peripheral blood absolute neutrophil counts below 0.5 x 10(9)/l and early onset of severe bacterial infections.13 Publications
    Note: The disease is caused by mutations affecting the gene represented in this entry.
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti25 – 251A → V in SCN1. 2 Publications
    VAR_064512
    Natural varianti42 – 421P → L in SCN1. 3 Publications
    VAR_070696
    Natural varianti43 – 431F → L in SCN1 and CH. 2 Publications
    VAR_070697
    Natural varianti44 – 441M → R in SCN1. 1 Publication
    VAR_070698
    Natural varianti45 – 451V → E in SCN1. 1 Publication
    VAR_070699
    Natural varianti46 – 461S → C in SCN1. 1 Publication
    VAR_070701
    Natural varianti46 – 461S → F in CH and SCN1. 2 Publications
    VAR_070702
    Natural varianti47 – 471L → P in SCN1. 1 Publication
    VAR_070703
    Natural varianti47 – 471L → R in SCN1. 1 Publication
    VAR_070704
    Natural varianti49 – 491L → P in SCN1. 1 Publication
    VAR_070705
    Natural varianti53 – 531H → L in SCN1. 1 Publication
    VAR_070706
    Natural varianti53 – 531H → Y in SCN1. 1 Publication
    VAR_070708
    Natural varianti55 – 551C → S in SCN1. 1 Publication
    VAR_070709
    Natural varianti55 – 551C → Y in SCN1. 1 Publication
    VAR_038609
    Natural varianti56 – 561G → R in SCN1. 1 Publication
    VAR_070710
    Natural varianti57 – 571A → S in SCN1. 2 Publications
    VAR_070711
    Natural varianti57 – 571A → T in SCN1. 2 Publications
    VAR_038610
    Natural varianti57 – 571A → V in SCN1. 2 Publications
    VAR_070712
    Natural varianti59 – 591L → P in SCN1. 2 Publications
    VAR_070713
    Natural varianti60 – 601I → T in SCN1. 2 Publications
    VAR_038611
    Natural varianti61 – 611A → V in SCN1 and CH. 2 Publications
    VAR_070715
    Natural varianti65 – 651Missing in SCN1. 1 Publication
    VAR_070716
    Natural varianti66 – 705Missing in SCN1.
    VAR_070717
    Natural varianti67 – 671S → W in SCN1. 1 Publication
    VAR_070718
    Natural varianti71 – 711C → F in SCN1. 1 Publication
    VAR_070719
    Natural varianti71 – 711C → R in SCN1. 2 Publications
    Corresponds to variant rs28931611 [ dbSNP | Ensembl ].
    VAR_038612
    Natural varianti71 – 711C → S in SCN1. 1 Publication
    VAR_038613
    Natural varianti71 – 711C → Y in SCN1. 1 Publication
    VAR_070720
    Natural varianti72 – 721V → G in SCN1. 1 Publication
    VAR_070721
    Natural varianti80 – 801V → G in SCN1. 1 Publication
    VAR_070722
    Natural varianti81 – 811R → P in SCN1 and CH. 3 Publications
    VAR_070723
    Natural varianti82 – 821V → M in SCN1 and CH. 2 Publications
    VAR_070724
    Natural varianti84 – 841L → P in SCN1. 2 Publications
    VAR_070725
    Natural varianti85 – 851G → E in SCN1. 2 Publications
    VAR_038614
    Natural varianti85 – 851G → R in SCN1. 1 Publication
    VAR_070726
    Natural varianti98 – 981V → L in SCN1; located on the same allele as L-101; reduces proteolytic enzyme activity by slightly less than half; together with L-101 shows an additive effect with minimal remaining enzyme activity. 2 Publications
    VAR_038615
    Natural varianti98 – 981V → M in SCN1. 1 Publication
    VAR_070728
    Natural varianti101 – 1011V → L in SCN1; located on the same allele as L-98; reduces proteolytic enzyme activity by slightly less than half; together with L-98 shows an additive effect with minimal remaining enzyme activity. 2 Publications
    VAR_038616
    Natural varianti101 – 1011V → M in SCN1. 3 Publications
    Corresponds to variant rs28929494 [ dbSNP | Ensembl ].
    VAR_038617
    Natural varianti103 – 1031R → L in SCN1. 1 Publication
    VAR_070729
    Natural varianti103 – 1031R → P in SCN1. 1 Publication
    VAR_070730
    Natural varianti120 – 1201I → F in SCN1 and CH. 1 Publication
    VAR_070733
    Natural varianti120 – 1201I → N in SCN1. 1 Publication
    VAR_070734
    Natural varianti120 – 1201I → S in SCN1. 1 Publication
    VAR_070735
    Natural varianti121 – 1211L → P in SCN1. 2 Publications
    VAR_070736
    Natural varianti123 – 1231L → H in SCN1. 1 Publication
    VAR_070737
    Natural varianti123 – 1231L → PQL in SCN1.
    VAR_038618
    Natural varianti124 – 1241N → I in SCN1. 1 Publication
    VAR_070738
    Natural varianti126 – 1261S → L in SCN1 and CH. 5 Publications
    Corresponds to variant rs137854450 [ dbSNP | Ensembl ].
    VAR_038619
    Natural varianti127 – 1271A → D in SCN1. 1 Publication
    VAR_070740
    Natural varianti127 – 1271A → P in SCN1. 1 Publication
    VAR_070741
    Natural varianti131 – 1311A → T in SCN1; unknown pathological significance. 2 Publications
    VAR_070742
    Natural varianti136 – 1361A → D in SCN1. 1 Publication
    VAR_070744
    Natural varianti139 – 1391P → L in SCN1 and CH. 3 Publications
    Corresponds to variant rs28929493 [ dbSNP | Ensembl ].
    VAR_038620
    Natural varianti139 – 1391P → R in SCN1. 1 Publication
    VAR_070745
    Natural varianti151 – 1511C → F in SCN1. 1 Publication
    VAR_070747
    Natural varianti151 – 1511C → S in SCN1. 1 Publication
    VAR_038621
    Natural varianti151 – 1511C → W in SCN1. 1 Publication
    VAR_070748
    Natural varianti151 – 1511C → Y in SCN1; unknown pathological significance. 1 Publication
    Corresponds to variant rs57246956 [ dbSNP | Ensembl ].
    VAR_070749
    Natural varianti152 – 1521L → P in SCN1. 3 Publications
    VAR_070750
    Natural varianti153 – 1531A → D in SCN1. 1 Publication
    VAR_070751
    Natural varianti153 – 1531A → P in SCN1. 1 Publication
    VAR_070752
    Natural varianti156 – 1561W → C in SCN1. 1 Publication
    VAR_070753
    Natural varianti156 – 1561W → R in SCN1. 1 Publication
    VAR_070754
    Natural varianti166 – 1661A → T in SCN1; the patient also carries mutation Lys-116 in G6PC3. 2 Publications
    Corresponds to variant rs201788817 [ dbSNP | Ensembl ].
    VAR_064513
    Natural varianti190 – 19910Missing in SCN1 and CH.
    VAR_038622
    Natural varianti203 – 2031G → C in SCN1 and CH. 2 Publications
    VAR_070755
    Natural varianti203 – 2031G → R in SCN1. 2 Publications
    VAR_070756
    Natural varianti205 – 2051P → R in SCN1. 2 Publications
    VAR_038623
    Natural varianti206 – 2061L → S in SCN1. 1 Publication
    VAR_070758
    Natural varianti208 – 2081C → G in SCN1. 1 Publication
    VAR_070759
    Natural varianti210 – 2101G → V in SCN1. 1 Publication
    VAR_038624
    Natural varianti214 – 2141G → E in SCN1. 1 Publication
    VAR_070762
    Natural varianti214 – 2141G → R in SCN1. 2 Publications
    VAR_038625
    Natural varianti219 – 2191V → I in CH and SCN1; unknown pathological significance. 3 Publications
    Corresponds to variant rs17216656 [ dbSNP | Ensembl ].
    VAR_019237
    Natural varianti220 – 2201R → Q in CH and SCN1; loss of interaction with NOTCH2NL and loss of NOTCH2NL and NOTCH2 proteolytic cleavage. 3 Publications
    VAR_070763
    Natural varianti233 – 2331A → P in SCN1. 1 Publication
    VAR_070764
    Natural varianti235 – 2351V → E in SCN1. 2 Publications
    VAR_070765
    Natural varianti235 – 2351V → G in SCN1. 2 Publications
    VAR_070766

    Keywords - Diseasei

    Disease mutation

    Organism-specific databases

    MIMi162800. phenotype.
    202700. phenotype.
    Orphaneti486. Autosomal dominant severe congenital neutropenia.
    2686. Cyclic neutropenia.
    PharmGKBiPA27735.

    PTM / Processingi

    Molecule processing

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Signal peptidei1 – 2727Sequence AnalysisAdd
    BLAST
    Propeptidei28 – 2923 PublicationsPRO_0000027703
    Chaini30 – 267238Neutrophil elastasePRO_0000027704Add
    BLAST

    Amino acid modifications

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Disulfide bondi55 ↔ 711 PublicationPROSITE-ProRule annotation
    Glycosylationi88 – 881N-linked (GlcNAc...)1 Publication
    Glycosylationi124 – 1241N-linked (GlcNAc...)1 Publication
    Disulfide bondi151 ↔ 2081 PublicationPROSITE-ProRule annotation
    Glycosylationi173 – 1731N-linked (GlcNAc...)2 Publications
    Disulfide bondi181 ↔ 1871 PublicationPROSITE-ProRule annotation
    Disulfide bondi198 ↔ 2231 PublicationPROSITE-ProRule annotation

    Keywords - PTMi

    Disulfide bond, Glycoprotein, Zymogen

    Proteomic databases

    PaxDbiP08246.
    PeptideAtlasiP08246.
    PRIDEiP08246.

    Expressioni

    Tissue specificityi

    Bone marrow cells.

    Gene expression databases

    ArrayExpressiP08246.
    BgeeiP08246.
    CleanExiHS_ELA2.
    GenevestigatoriP08246.

    Organism-specific databases

    HPAiCAB015409.

    Interactioni

    Subunit structurei

    Interacts with NOTCH2NL.1 Publication

    Binary interactionsi

    WithEntry#Exp.IntActNotes
    Col17a1Q075632EBI-986345,EBI-6251005From a different organism.

    Protein-protein interaction databases

    BioGridi108306. 9 interactions.
    IntActiP08246. 4 interactions.
    MINTiMINT-1505052.
    STRINGi9606.ENSP00000263621.

    Structurei

    Secondary structure

    1
    267
    Legend: HelixTurnBeta strand
    Show more details
    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Beta strandi44 – 496
    Beta strandi52 – 6110
    Beta strandi64 – 674
    Helixi69 – 724
    Helixi77 – 793
    Beta strandi81 – 855
    Beta strandi97 – 10711
    Turni111 – 1144
    Beta strandi119 – 1257
    Beta strandi130 – 1323
    Beta strandi150 – 1589
    Beta strandi160 – 1623
    Beta strandi170 – 1778
    Beta strandi185 – 1895
    Beta strandi191 – 1933
    Beta strandi205 – 2084
    Beta strandi211 – 22212
    Beta strandi226 – 2283
    Beta strandi230 – 2345
    Helixi235 – 2384
    Helixi239 – 2468

    3D structure databases

    Select the link destinations:
    PDBe
    RCSB PDB
    PDBj
    Links Updated
    EntryMethodResolution (Å)ChainPositionsPDBsum
    1B0FX-ray3.00A30-247[»]
    1H1BX-ray2.00A/B30-247[»]
    1HNEX-ray1.84E30-247[»]
    1PPFX-ray1.80E30-247[»]
    1PPGX-ray2.30E30-247[»]
    2RG3X-ray1.80A30-247[»]
    2Z7FX-ray1.70E30-247[»]
    3Q76X-ray1.86A/B30-247[»]
    3Q77X-ray2.00A30-247[»]
    ProteinModelPortaliP08246.
    SMRiP08246. Positions 30-247.
    ModBaseiSearch...
    MobiDBiSearch...

    Miscellaneous databases

    EvolutionaryTraceiP08246.

    Family & Domainsi

    Domains and Repeats

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Domaini30 – 247218Peptidase S1PROSITE-ProRule annotationAdd
    BLAST

    Sequence similaritiesi

    Belongs to the peptidase S1 family. Elastase subfamily.PROSITE-ProRule annotation
    Contains 1 peptidase S1 domain.PROSITE-ProRule annotation

    Keywords - Domaini

    Signal

    Phylogenomic databases

    eggNOGiCOG5640.
    HOGENOMiHOG000251820.
    HOVERGENiHBG013304.
    InParanoidiP08246.
    KOiK01327.
    OMAiLRGGHFC.
    OrthoDBiEOG7MKW6Q.
    PhylomeDBiP08246.

    Family and domain databases

    InterProiIPR001254. Peptidase_S1.
    IPR018114. Peptidase_S1_AS.
    IPR001314. Peptidase_S1A.
    IPR009003. Trypsin-like_Pept_dom.
    [Graphical view]
    PfamiPF00089. Trypsin. 1 hit.
    [Graphical view]
    PRINTSiPR00722. CHYMOTRYPSIN.
    SMARTiSM00020. Tryp_SPc. 1 hit.
    [Graphical view]
    SUPFAMiSSF50494. SSF50494. 1 hit.
    PROSITEiPS50240. TRYPSIN_DOM. 1 hit.
    PS00134. TRYPSIN_HIS. 1 hit.
    PS00135. TRYPSIN_SER. 1 hit.
    [Graphical view]

    Sequencei

    Sequence statusi: Complete.

    Sequence processingi: The displayed sequence is further processed into a mature form.

    P08246-1 [UniParc]FASTAAdd to Basket

    « Hide

    MTLGRRLACL FLACVLPALL LGGTALASEI VGGRRARPHA WPFMVSLQLR    50
    GGHFCGATLI APNFVMSAAH CVANVNVRAV RVVLGAHNLS RREPTRQVFA 100
    VQRIFENGYD PVNLLNDIVI LQLNGSATIN ANVQVAQLPA QGRRLGNGVQ 150
    CLAMGWGLLG RNRGIASVLQ ELNVTVVTSL CRRSNVCTLV RGRQAGVCFG 200
    DSGSPLVCNG LIHGIASFVR GGCASGLYPD AFAPVAQFVN WIDSIIQRSE 250
    DNPCPHPRDP DPASRTH 267
    Length:267
    Mass (Da):28,518
    Last modified:August 1, 1988 - v1
    Checksum:i3F7610DC33CAA4B9
    GO

    Sequence cautioni

    The sequence CAA29300.1 differs from that shown. Reason: Erroneous initiation.

    Natural variant

    Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
    Natural varianti25 – 251A → V in SCN1. 2 Publications
    VAR_064512
    Natural varianti42 – 421P → L in SCN1. 3 Publications
    VAR_070696
    Natural varianti43 – 431F → L in SCN1 and CH. 2 Publications
    VAR_070697
    Natural varianti44 – 441M → R in SCN1. 1 Publication
    VAR_070698
    Natural varianti45 – 451V → E in SCN1. 1 Publication
    VAR_070699
    Natural varianti45 – 451V → L in CH. 1 Publication
    VAR_070700
    Natural varianti46 – 461S → C in SCN1. 1 Publication
    VAR_070701
    Natural varianti46 – 461S → F in CH and SCN1. 2 Publications
    VAR_070702
    Natural varianti47 – 471L → P in SCN1. 1 Publication
    VAR_070703
    Natural varianti47 – 471L → R in SCN1. 1 Publication
    VAR_070704
    Natural varianti49 – 491L → P in SCN1. 1 Publication
    VAR_070705
    Natural varianti53 – 531H → L in SCN1. 1 Publication
    VAR_070706
    Natural varianti53 – 531H → Q in CH.
    VAR_070707
    Natural varianti53 – 531H → Y in SCN1. 1 Publication
    VAR_070708
    Natural varianti55 – 551C → S in SCN1. 1 Publication
    VAR_070709
    Natural varianti55 – 551C → Y in SCN1. 1 Publication
    VAR_038609
    Natural varianti56 – 561G → R in SCN1. 1 Publication
    VAR_070710
    Natural varianti57 – 571A → S in SCN1. 2 Publications
    VAR_070711
    Natural varianti57 – 571A → T in SCN1. 2 Publications
    VAR_038610
    Natural varianti57 – 571A → V in SCN1. 2 Publications
    VAR_070712
    Natural varianti59 – 591L → P in SCN1. 2 Publications
    VAR_070713
    Natural varianti60 – 612IA → R.1 Publication
    VAR_070714
    Natural varianti60 – 601I → T in SCN1. 2 Publications
    VAR_038611
    Natural varianti61 – 611A → V in SCN1 and CH. 2 Publications
    VAR_070715
    Natural varianti65 – 651Missing in SCN1. 1 Publication
    VAR_070716
    Natural varianti66 – 705Missing in SCN1.
    VAR_070717
    Natural varianti67 – 671S → W in SCN1. 1 Publication
    VAR_070718
    Natural varianti71 – 711C → F in SCN1. 1 Publication
    VAR_070719
    Natural varianti71 – 711C → R in SCN1. 2 Publications
    Corresponds to variant rs28931611 [ dbSNP | Ensembl ].
    VAR_038612
    Natural varianti71 – 711C → S in SCN1. 1 Publication
    VAR_038613
    Natural varianti71 – 711C → Y in SCN1. 1 Publication
    VAR_070720
    Natural varianti72 – 721V → G in SCN1. 1 Publication
    VAR_070721
    Natural varianti80 – 801V → G in SCN1. 1 Publication
    VAR_070722
    Natural varianti81 – 811R → P in SCN1 and CH. 3 Publications
    VAR_070723
    Natural varianti82 – 821V → M in SCN1 and CH. 2 Publications
    VAR_070724
    Natural varianti84 – 841L → P in SCN1. 2 Publications
    VAR_070725
    Natural varianti85 – 851G → E in SCN1. 2 Publications
    VAR_038614
    Natural varianti85 – 851G → R in SCN1. 1 Publication
    VAR_070726
    Natural varianti97 – 971Q → L in CH. 1 Publication
    VAR_070727
    Natural varianti98 – 981V → L in SCN1; located on the same allele as L-101; reduces proteolytic enzyme activity by slightly less than half; together with L-101 shows an additive effect with minimal remaining enzyme activity. 2 Publications
    VAR_038615
    Natural varianti98 – 981V → M in SCN1. 1 Publication
    VAR_070728
    Natural varianti101 – 1011V → L in SCN1; located on the same allele as L-98; reduces proteolytic enzyme activity by slightly less than half; together with L-98 shows an additive effect with minimal remaining enzyme activity. 2 Publications
    VAR_038616
    Natural varianti101 – 1011V → M in SCN1. 3 Publications
    Corresponds to variant rs28929494 [ dbSNP | Ensembl ].
    VAR_038617
    Natural varianti103 – 1031R → L in SCN1. 1 Publication
    VAR_070729
    Natural varianti103 – 1031R → P in SCN1. 1 Publication
    VAR_070730
    Natural varianti104 – 1041I → N in CH. 1 Publication
    VAR_070731
    Natural varianti118 – 1181I → V.1 Publication
    VAR_070732
    Natural varianti120 – 1201I → F in SCN1 and CH. 1 Publication
    VAR_070733
    Natural varianti120 – 1201I → N in SCN1. 1 Publication
    VAR_070734
    Natural varianti120 – 1201I → S in SCN1. 1 Publication
    VAR_070735
    Natural varianti121 – 1211L → P in SCN1. 2 Publications
    VAR_070736
    Natural varianti123 – 1231L → H in SCN1. 1 Publication
    VAR_070737
    Natural varianti123 – 1231L → PQL in SCN1.
    VAR_038618
    Natural varianti124 – 1241N → I in SCN1. 1 Publication
    VAR_070738
    Natural varianti125 – 1251G → R.1 Publication
    VAR_070739
    Natural varianti126 – 1261S → L in SCN1 and CH. 5 Publications
    Corresponds to variant rs137854450 [ dbSNP | Ensembl ].
    VAR_038619
    Natural varianti127 – 1271A → D in SCN1. 1 Publication
    VAR_070740
    Natural varianti127 – 1271A → P in SCN1. 1 Publication
    VAR_070741
    Natural varianti131 – 1311A → T in SCN1; unknown pathological significance. 2 Publications
    VAR_070742
    Natural varianti135 – 1351V → M.1 Publication
    VAR_070743
    Natural varianti136 – 1361A → D in SCN1. 1 Publication
    VAR_070744
    Natural varianti139 – 1391P → L in SCN1 and CH. 3 Publications
    Corresponds to variant rs28929493 [ dbSNP | Ensembl ].
    VAR_038620
    Natural varianti139 – 1391P → R in SCN1. 1 Publication
    VAR_070745
    Natural varianti143 – 1431R → H in CH; unknown pathological significance. 1 Publication
    Corresponds to variant rs200993994 [ dbSNP | Ensembl ].
    VAR_070746
    Natural varianti151 – 1511C → F in SCN1. 1 Publication
    VAR_070747
    Natural varianti151 – 1511C → S in SCN1. 1 Publication
    VAR_038621
    Natural varianti151 – 1511C → W in SCN1. 1 Publication
    VAR_070748
    Natural varianti151 – 1511C → Y in SCN1; unknown pathological significance. 1 Publication
    Corresponds to variant rs57246956 [ dbSNP | Ensembl ].
    VAR_070749
    Natural varianti152 – 1521L → P in SCN1. 3 Publications
    VAR_070750
    Natural varianti153 – 1531A → D in SCN1. 1 Publication
    VAR_070751
    Natural varianti153 – 1531A → P in SCN1. 1 Publication
    VAR_070752
    Natural varianti156 – 1561W → C in SCN1. 1 Publication
    VAR_070753
    Natural varianti156 – 1561W → R in SCN1. 1 Publication
    VAR_070754
    Natural varianti166 – 1661A → T in SCN1; the patient also carries mutation Lys-116 in G6PC3. 2 Publications
    Corresponds to variant rs201788817 [ dbSNP | Ensembl ].
    VAR_064513
    Natural varianti190 – 19910Missing in SCN1 and CH.
    VAR_038622
    Natural varianti203 – 2031G → C in SCN1 and CH. 2 Publications
    VAR_070755
    Natural varianti203 – 2031G → R in SCN1. 2 Publications
    VAR_070756
    Natural varianti205 – 2051P → R in SCN1. 2 Publications
    VAR_038623
    Natural varianti206 – 2061L → F in CH. 1 Publication
    VAR_070757
    Natural varianti206 – 2061L → S in SCN1. 1 Publication
    VAR_070758
    Natural varianti208 – 2081C → G in SCN1. 1 Publication
    VAR_070759
    Natural varianti209 – 2091N → I in CH. 1 Publication
    VAR_070760
    Natural varianti210 – 2101G → V in SCN1. 1 Publication
    VAR_038624
    Natural varianti210 – 2101G → W in CH. 1 Publication
    VAR_070761
    Natural varianti214 – 2141G → E in SCN1. 1 Publication
    VAR_070762