Skip Header

You are using a version of browser that may not display all the features of this website. Please consider upgrading your browser.
Protein

Neutrophil elastase

Gene

ELANE

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 5 out of 5-Experimental evidence at protein leveli

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)DescriptionActionsGraphical viewLength
Active sitei70Charge relay system1
Active sitei117Charge relay system1
Active sitei202Charge relay system1

GO - Molecular functioni

  • cytokine binding Source: UniProtKB
  • endopeptidase activity Source: UniProtKB
  • heparin binding Source: MGI
  • peptidase activity Source: MGI
  • protease binding Source: BHF-UCL
  • RNA polymerase II transcription corepressor activity Source: UniProtKB
  • serine-type endopeptidase activity Source: GO_Central

GO - Biological processi

  • acute inflammatory response to antigenic stimulus Source: GO_Central
  • cellular calcium ion homeostasis Source: UniProtKB
  • defense response to bacterium Source: UniProtKB
  • extracellular matrix disassembly Source: Reactome
  • leukocyte migration involved in inflammatory response Source: Ensembl
  • negative regulation of chemokine biosynthetic process Source: UniProtKB
  • negative regulation of chemotaxis Source: UniProtKB
  • negative regulation of growth of symbiont in host Source: Ensembl
  • negative regulation of inflammatory response Source: UniProtKB
  • negative regulation of interleukin-8 biosynthetic process Source: UniProtKB
  • negative regulation of transcription from RNA polymerase II promoter Source: UniProtKB
  • neutrophil mediated killing of fungus Source: Ensembl
  • phagocytosis Source: GO_Central
  • positive regulation of immune response Source: Ensembl
  • positive regulation of interleukin-8 biosynthetic process Source: UniProtKB
  • positive regulation of leukocyte tethering or rolling Source: Ensembl
  • positive regulation of MAP kinase activity Source: UniProtKB
  • positive regulation of smooth muscle cell proliferation Source: UniProtKB
  • protein catabolic process Source: UniProtKB
  • proteolysis Source: MGI
  • response to lipopolysaccharide Source: Ensembl
  • response to UV Source: UniProtKB
  • response to yeast Source: Ensembl
Complete GO annotation...

Keywords - Molecular functioni

Hydrolase, Protease, Serine protease

Enzyme and pathway databases

BioCyciZFISH:HS03921-MONOMER.
BRENDAi3.4.21.37. 2681.
ReactomeiR-HSA-1442490. Collagen degradation.
R-HSA-1474228. Degradation of the extracellular matrix.
R-HSA-1592389. Activation of Matrix Metalloproteinases.
R-HSA-6798695. Neutrophil degranulation.
R-HSA-6803157. Antimicrobial peptides.
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
Proteomesi
  • UP000005640 Componenti: Chromosome 19

Organism-specific databases

HGNCiHGNC:3309. ELANE.

Subcellular locationi

GO - Cellular componenti

  • cell surface Source: UniProtKB
  • cytoplasm Source: UniProtKB
  • extracellular exosome Source: UniProtKB
  • extracellular region Source: UniProtKB
  • extracellular space Source: UniProtKB
  • secretory granule Source: MGI
  • transcriptional repressor complex Source: UniProtKB
Complete GO annotation...

Pathology & Biotechi

Involvement in diseasei

Cyclic haematopoiesis (CH)4 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionAutosomal 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.
See also OMIM:162800
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_07069743F → L in SCN1 and CH. 2 Publications1
Natural variantiVAR_07070045V → L in CH. 1 Publication1
Natural variantiVAR_07070246S → F in CH and SCN1. 2 Publications1
Natural variantiVAR_07070753H → Q in CH. 1
Natural variantiVAR_07071561A → V in SCN1 and CH. 2 PublicationsCorresponds to variant rs137854447dbSNPEnsembl.1
Natural variantiVAR_07072381R → P in SCN1 and CH. 3 Publications1
Natural variantiVAR_07072482V → M in SCN1 and CH. 2 Publications1
Natural variantiVAR_07072797Q → L in CH. 1 Publication1
Natural variantiVAR_070731104I → N in CH. 1 Publication1
Natural variantiVAR_070733120I → F in SCN1 and CH. 1 Publication1
Natural variantiVAR_038619126S → L in SCN1 and CH. 5 PublicationsCorresponds to variant rs137854450dbSNPEnsembl.1
Natural variantiVAR_038620139P → L in SCN1 and CH. 3 PublicationsCorresponds to variant rs28929493dbSNPEnsembl.1
Natural variantiVAR_070746143R → H in CH; unknown pathological significance. 1 PublicationCorresponds to variant rs200993994dbSNPEnsembl.1
Natural variantiVAR_038622190 – 199Missing in SCN1 and CH. 1 Publication10
Natural variantiVAR_070755203G → C in SCN1 and CH. 2 Publications1
Natural variantiVAR_070757206L → F in CH. 1 PublicationCorresponds to variant rs137854446dbSNPEnsembl.1
Natural variantiVAR_070760209N → I in CH. 1 Publication1
Natural variantiVAR_070761210G → W in CH. 1 Publication1
Natural variantiVAR_019237219V → I in CH and SCN1; unknown pathological significance. 3 PublicationsCorresponds to variant rs17216656dbSNPEnsembl.1
Natural variantiVAR_070763220R → Q in CH and SCN1; loss of interaction with NOTCH2NL and loss of NOTCH2NL and NOTCH2 proteolytic cleavage. 4 PublicationsCorresponds to variant rs137854445dbSNPEnsembl.1
Neutropenia, severe congenital 1, autosomal dominant (SCN1)13 Publications
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA 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.
See also OMIM:202700
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06451225A → V in SCN1. 2 Publications1
Natural variantiVAR_07069642P → L in SCN1. 3 Publications1
Natural variantiVAR_07069743F → L in SCN1 and CH. 2 Publications1
Natural variantiVAR_07069844M → R in SCN1. 1 Publication1
Natural variantiVAR_07069945V → E in SCN1. 1 Publication1
Natural variantiVAR_07070146S → C in SCN1. 1 Publication1
Natural variantiVAR_07070246S → F in CH and SCN1. 2 Publications1
Natural variantiVAR_07070347L → P in SCN1. 1 Publication1
Natural variantiVAR_07070447L → R in SCN1. 1 Publication1
Natural variantiVAR_07070549L → P in SCN1. 1 Publication1
Natural variantiVAR_07070653H → L in SCN1. 1 Publication1
Natural variantiVAR_07070853H → Y in SCN1. 1 Publication1
Natural variantiVAR_07070955C → S in SCN1. 1 Publication1
Natural variantiVAR_03860955C → Y in SCN1. 1 Publication1
Natural variantiVAR_07071056G → R in SCN1. 1 Publication1
Natural variantiVAR_07071157A → S in SCN1. 2 Publications1
Natural variantiVAR_03861057A → T in SCN1. 2 Publications1
Natural variantiVAR_07071257A → V in SCN1. 2 Publications1
Natural variantiVAR_07071359L → P in SCN1. 2 Publications1
Natural variantiVAR_03861160I → T in SCN1. 2 Publications1
Natural variantiVAR_07071561A → V in SCN1 and CH. 2 PublicationsCorresponds to variant rs137854447dbSNPEnsembl.1
Natural variantiVAR_07071665Missing in SCN1. 1 Publication1
Natural variantiVAR_07071766 – 70Missing in SCN1. 1 Publication5
Natural variantiVAR_07071867S → W in SCN1. 1 Publication1
Natural variantiVAR_07071971C → F in SCN1. 1 Publication1
Natural variantiVAR_03861271C → R in SCN1. 2 PublicationsCorresponds to variant rs28931611dbSNPEnsembl.1
Natural variantiVAR_03861371C → S in SCN1. 1 Publication1
Natural variantiVAR_07072071C → Y in SCN1. 1 Publication1
Natural variantiVAR_07072172V → G in SCN1. 1 Publication1
Natural variantiVAR_07072280V → G in SCN1. 1 Publication1
Natural variantiVAR_07072381R → P in SCN1 and CH. 3 Publications1
Natural variantiVAR_07072482V → M in SCN1 and CH. 2 Publications1
Natural variantiVAR_07072584L → P in SCN1. 2 Publications1
Natural variantiVAR_03861485G → E in SCN1. 2 Publications1
Natural variantiVAR_07072685G → R in SCN1. 1 Publication1
Natural variantiVAR_03861598V → 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 PublicationsCorresponds to variant rs267606781dbSNPEnsembl.1
Natural variantiVAR_07072898V → M in SCN1. 1 Publication1
Natural variantiVAR_038616101V → 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 PublicationsCorresponds to variant rs137854449dbSNPEnsembl.1
Natural variantiVAR_038617101V → M in SCN1. 3 PublicationsCorresponds to variant rs28929494dbSNPEnsembl.1
Natural variantiVAR_070729103R → L in SCN1. 1 Publication1
Natural variantiVAR_070730103R → P in SCN1. 1 Publication1
Natural variantiVAR_070733120I → F in SCN1 and CH. 1 Publication1
Natural variantiVAR_070734120I → N in SCN1. 1 Publication1
Natural variantiVAR_070735120I → S in SCN1. 1 Publication1
Natural variantiVAR_070736121L → P in SCN1. 2 Publications1
Natural variantiVAR_070737123L → H in SCN1. 1 Publication1
Natural variantiVAR_038618123L → PQL in SCN1. 1
Natural variantiVAR_070738124N → I in SCN1. 1 Publication1
Natural variantiVAR_038619126S → L in SCN1 and CH. 5 PublicationsCorresponds to variant rs137854450dbSNPEnsembl.1
Natural variantiVAR_070740127A → D in SCN1. 1 Publication1
Natural variantiVAR_070741127A → P in SCN1. 1 Publication1
Natural variantiVAR_070742131A → T in SCN1; unknown pathological significance. 2 PublicationsCorresponds to variant rs201729066dbSNPEnsembl.1
Natural variantiVAR_070744136A → D in SCN1. 1 Publication1
Natural variantiVAR_038620139P → L in SCN1 and CH. 3 PublicationsCorresponds to variant rs28929493dbSNPEnsembl.1
Natural variantiVAR_070745139P → R in SCN1. 1 Publication1
Natural variantiVAR_070747151C → F in SCN1. 1 Publication1
Natural variantiVAR_038621151C → S in SCN1. 1 Publication1
Natural variantiVAR_070748151C → W in SCN1. 1 Publication1
Natural variantiVAR_070749151C → Y in SCN1; unknown pathological significance. 1 PublicationCorresponds to variant rs57246956dbSNPEnsembl.1
Natural variantiVAR_070750152L → P in SCN1. 3 Publications1
Natural variantiVAR_070751153A → D in SCN1. 1 Publication1
Natural variantiVAR_070752153A → P in SCN1. 1 Publication1
Natural variantiVAR_070753156W → C in SCN1. 1 Publication1
Natural variantiVAR_070754156W → R in SCN1. 1 Publication1
Natural variantiVAR_064513166A → T in SCN1; the patient also carries mutation Lys-116 in G6PC3. 2 PublicationsCorresponds to variant rs201788817dbSNPEnsembl.1
Natural variantiVAR_038622190 – 199Missing in SCN1 and CH. 1 Publication10
Natural variantiVAR_070755203G → C in SCN1 and CH. 2 Publications1
Natural variantiVAR_070756203G → R in SCN1. 2 Publications1
Natural variantiVAR_038623205P → R in SCN1. 2 Publications1
Natural variantiVAR_070758206L → S in SCN1. 1 Publication1
Natural variantiVAR_070759208C → G in SCN1. 1 Publication1
Natural variantiVAR_038624210G → V in SCN1. 1 Publication1
Natural variantiVAR_070762214G → E in SCN1. 1 Publication1
Natural variantiVAR_038625214G → R in SCN1. 2 PublicationsCorresponds to variant rs137854451dbSNPEnsembl.1
Natural variantiVAR_019237219V → I in CH and SCN1; unknown pathological significance. 3 PublicationsCorresponds to variant rs17216656dbSNPEnsembl.1
Natural variantiVAR_070763220R → Q in CH and SCN1; loss of interaction with NOTCH2NL and loss of NOTCH2NL and NOTCH2 proteolytic cleavage. 4 PublicationsCorresponds to variant rs137854445dbSNPEnsembl.1
Natural variantiVAR_070764233A → P in SCN1. 1 Publication1
Natural variantiVAR_070765235V → E in SCN1. 2 Publications1
Natural variantiVAR_070766235V → G in SCN1. 2 Publications1

Keywords - Diseasei

Disease mutation

Organism-specific databases

DisGeNETi1991.
MalaCardsiELANE.
MIMi162800. phenotype.
202700. phenotype.
OpenTargetsiENSG00000197561.
ENSG00000277571.
Orphaneti486. Autosomal dominant severe congenital neutropenia.
2686. Cyclic neutropenia.
PharmGKBiPA27735.

Chemistry databases

ChEMBLiCHEMBL248.
DrugBankiDB00058. Alpha-1-proteinase inhibitor.
DB00099. Filgrastim.
DB00019. Pegfilgrastim.
GuidetoPHARMACOLOGYi2358.

Polymorphism and mutation databases

BioMutaiELANE.
DMDMi119292.

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Signal peptidei1 – 27Sequence analysisAdd BLAST27
PropeptideiPRO_000002770328 – 293 Publications2
ChainiPRO_000002770430 – 267Neutrophil elastaseAdd BLAST238

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Disulfide bondi55 ↔ 71PROSITE-ProRule annotation1 Publication
Glycosylationi88N-linked (GlcNAc...)1 Publication1
Glycosylationi124N-linked (GlcNAc...)1 Publication1
Disulfide bondi151 ↔ 208PROSITE-ProRule annotation1 Publication
Glycosylationi173N-linked (GlcNAc...)2 Publications1
Disulfide bondi181 ↔ 187PROSITE-ProRule annotation1 Publication
Disulfide bondi198 ↔ 223PROSITE-ProRule annotation1 Publication

Keywords - PTMi

Disulfide bond, Glycoprotein, Zymogen

Proteomic databases

PaxDbiP08246.
PeptideAtlasiP08246.
PRIDEiP08246.

Expressioni

Tissue specificityi

Bone marrow cells.

Gene expression databases

BgeeiENSG00000197561.
CleanExiHS_ELA2.
GenevisibleiP08246. HS.

Organism-specific databases

HPAiCAB015409.

Interactioni

Subunit structurei

Interacts with NOTCH2NL.1 Publication

Binary interactionsi

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

GO - Molecular functioni

  • cytokine binding Source: UniProtKB
  • protease binding Source: BHF-UCL

Protein-protein interaction databases

BioGridi108306. 9 interactors.
IntActiP08246. 5 interactors.
MINTiMINT-1505052.
STRINGi9606.ENSP00000263621.

Chemistry databases

BindingDBiP08246.

Structurei

Secondary structure

1267
Legend: HelixTurnBeta strandPDB Structure known for this area
Show more details
Feature keyPosition(s)DescriptionActionsGraphical viewLength
Beta strandi44 – 49Combined sources6
Beta strandi52 – 61Combined sources10
Beta strandi64 – 67Combined sources4
Helixi69 – 72Combined sources4
Helixi77 – 79Combined sources3
Beta strandi81 – 85Combined sources5
Beta strandi97 – 106Combined sources10
Turni111 – 114Combined sources4
Beta strandi119 – 125Combined sources7
Beta strandi130 – 132Combined sources3
Beta strandi150 – 158Combined sources9
Beta strandi161 – 163Combined sources3
Beta strandi170 – 177Combined sources8
Beta strandi185 – 189Combined sources5
Beta strandi191 – 193Combined sources3
Beta strandi205 – 208Combined sources4
Beta strandi211 – 218Combined sources8
Beta strandi220 – 222Combined sources3
Beta strandi226 – 228Combined sources3
Beta strandi230 – 234Combined sources5
Helixi235 – 238Combined sources4
Helixi239 – 246Combined sources8

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
Links Updated
PDB 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[»]
4NZLX-ray1.85A30-247[»]
4WVPX-ray1.63E30-247[»]
5A09X-ray1.81A30-247[»]
5A0AX-ray1.78E30-247[»]
5A0BX-ray2.23A30-247[»]
5A0CX-ray2.10A/B30-247[»]
5A8XX-ray2.23A30-247[»]
5A8YX-ray1.90A30-247[»]
5A8ZX-ray2.00A30-247[»]
5ABWX-ray1.60A30-247[»]
ProteinModelPortaliP08246.
SMRiP08246.
ModBaseiSearch...
MobiDBiSearch...

Miscellaneous databases

EvolutionaryTraceiP08246.

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Domaini30 – 247Peptidase S1PROSITE-ProRule annotationAdd BLAST218

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

eggNOGiKOG3627. Eukaryota.
COG5640. LUCA.
GeneTreeiENSGT00760000118895.
HOGENOMiHOG000251820.
HOVERGENiHBG013304.
InParanoidiP08246.
KOiK01327.
OMAiQVFAVQR.
OrthoDBiEOG091G0DF7.
PhylomeDBiP08246.

Family and domain databases

CDDicd00190. Tryp_SPc. 1 hit.
InterProiIPR009003. Peptidase_S1_PA.
IPR001314. Peptidase_S1A.
IPR001254. Trypsin_dom.
IPR018114. TRYPSIN_HIS.
IPR033116. TRYPSIN_SER.
[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

        10         20         30         40         50
MTLGRRLACL FLACVLPALL LGGTALASEI VGGRRARPHA WPFMVSLQLR
60 70 80 90 100
GGHFCGATLI APNFVMSAAH CVANVNVRAV RVVLGAHNLS RREPTRQVFA
110 120 130 140 150
VQRIFENGYD PVNLLNDIVI LQLNGSATIN ANVQVAQLPA QGRRLGNGVQ
160 170 180 190 200
CLAMGWGLLG RNRGIASVLQ ELNVTVVTSL CRRSNVCTLV RGRQAGVCFG
210 220 230 240 250
DSGSPLVCNG LIHGIASFVR GGCASGLYPD AFAPVAQFVN WIDSIIQRSE
260
DNPCPHPRDP DPASRTH
Length:267
Mass (Da):28,518
Last modified:August 1, 1988 - v1
Checksum:i3F7610DC33CAA4B9
GO

Sequence cautioni

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

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_06451225A → V in SCN1. 2 Publications1
Natural variantiVAR_07069642P → L in SCN1. 3 Publications1
Natural variantiVAR_07069743F → L in SCN1 and CH. 2 Publications1
Natural variantiVAR_07069844M → R in SCN1. 1 Publication1
Natural variantiVAR_07069945V → E in SCN1. 1 Publication1
Natural variantiVAR_07070045V → L in CH. 1 Publication1
Natural variantiVAR_07070146S → C in SCN1. 1 Publication1
Natural variantiVAR_07070246S → F in CH and SCN1. 2 Publications1
Natural variantiVAR_07070347L → P in SCN1. 1 Publication1
Natural variantiVAR_07070447L → R in SCN1. 1 Publication1
Natural variantiVAR_07070549L → P in SCN1. 1 Publication1
Natural variantiVAR_07070653H → L in SCN1. 1 Publication1
Natural variantiVAR_07070753H → Q in CH. 1
Natural variantiVAR_07070853H → Y in SCN1. 1 Publication1
Natural variantiVAR_07070955C → S in SCN1. 1 Publication1
Natural variantiVAR_03860955C → Y in SCN1. 1 Publication1
Natural variantiVAR_07071056G → R in SCN1. 1 Publication1
Natural variantiVAR_07071157A → S in SCN1. 2 Publications1
Natural variantiVAR_03861057A → T in SCN1. 2 Publications1
Natural variantiVAR_07071257A → V in SCN1. 2 Publications1
Natural variantiVAR_07071359L → P in SCN1. 2 Publications1
Natural variantiVAR_07071460 – 61IA → R.1 Publication2
Natural variantiVAR_03861160I → T in SCN1. 2 Publications1
Natural variantiVAR_07071561A → V in SCN1 and CH. 2 PublicationsCorresponds to variant rs137854447dbSNPEnsembl.1
Natural variantiVAR_07071665Missing in SCN1. 1 Publication1
Natural variantiVAR_07071766 – 70Missing in SCN1. 1 Publication5
Natural variantiVAR_07071867S → W in SCN1. 1 Publication1
Natural variantiVAR_07071971C → F in SCN1. 1 Publication1
Natural variantiVAR_03861271C → R in SCN1. 2 PublicationsCorresponds to variant rs28931611dbSNPEnsembl.1
Natural variantiVAR_03861371C → S in SCN1. 1 Publication1
Natural variantiVAR_07072071C → Y in SCN1. 1 Publication1
Natural variantiVAR_07072172V → G in SCN1. 1 Publication1
Natural variantiVAR_07072280V → G in SCN1. 1 Publication1
Natural variantiVAR_07072381R → P in SCN1 and CH. 3 Publications1
Natural variantiVAR_07072482V → M in SCN1 and CH. 2 Publications1
Natural variantiVAR_07072584L → P in SCN1. 2 Publications1
Natural variantiVAR_03861485G → E in SCN1. 2 Publications1
Natural variantiVAR_07072685G → R in SCN1. 1 Publication1
Natural variantiVAR_07072797Q → L in CH. 1 Publication1
Natural variantiVAR_03861598V → 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 PublicationsCorresponds to variant rs267606781dbSNPEnsembl.1
Natural variantiVAR_07072898V → M in SCN1. 1 Publication1
Natural variantiVAR_038616101V → 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 PublicationsCorresponds to variant rs137854449dbSNPEnsembl.1
Natural variantiVAR_038617101V → M in SCN1. 3 PublicationsCorresponds to variant rs28929494dbSNPEnsembl.1
Natural variantiVAR_070729103R → L in SCN1. 1 Publication1
Natural variantiVAR_070730103R → P in SCN1. 1 Publication1
Natural variantiVAR_070731104I → N in CH. 1 Publication1
Natural variantiVAR_070732118I → V.1 Publication1
Natural variantiVAR_070733120I → F in SCN1 and CH. 1 Publication1
Natural variantiVAR_070734120I → N in SCN1. 1 Publication1
Natural variantiVAR_070735120I → S in SCN1. 1 Publication1
Natural variantiVAR_070736121L → P in SCN1. 2 Publications1
Natural variantiVAR_070737123L → H in SCN1. 1 Publication1
Natural variantiVAR_038618123L → PQL in SCN1. 1
Natural variantiVAR_070738124N → I in SCN1. 1 Publication1
Natural variantiVAR_070739125G → R.1 PublicationCorresponds to variant rs377698556dbSNPEnsembl.1
Natural variantiVAR_038619126S → L in SCN1 and CH. 5 PublicationsCorresponds to variant rs137854450dbSNPEnsembl.1
Natural variantiVAR_070740127A → D in SCN1. 1 Publication1
Natural variantiVAR_070741127A → P in SCN1. 1 Publication1
Natural variantiVAR_070742131A → T in SCN1; unknown pathological significance. 2 PublicationsCorresponds to variant rs201729066dbSNPEnsembl.1
Natural variantiVAR_070743135V → M.1 PublicationCorresponds to variant rs774457980dbSNPEnsembl.1
Natural variantiVAR_070744136A → D in SCN1. 1 Publication1
Natural variantiVAR_038620139P → L in SCN1 and CH. 3 PublicationsCorresponds to variant rs28929493dbSNPEnsembl.1
Natural variantiVAR_070745139P → R in SCN1. 1 Publication1
Natural variantiVAR_070746143R → H in CH; unknown pathological significance. 1 PublicationCorresponds to variant rs200993994dbSNPEnsembl.1
Natural variantiVAR_070747151C → F in SCN1. 1 Publication1
Natural variantiVAR_038621151C → S in SCN1. 1 Publication1
Natural variantiVAR_070748151C → W in SCN1. 1 Publication1
Natural variantiVAR_070749151C → Y in SCN1; unknown pathological significance. 1 PublicationCorresponds to variant rs57246956dbSNPEnsembl.1
Natural variantiVAR_070750152L → P in SCN1. 3 Publications1
Natural variantiVAR_070751153A → D in SCN1. 1 Publication1
Natural variantiVAR_070752153A → P in SCN1. 1 Publication1
Natural variantiVAR_070753156W → C in SCN1. 1 Publication1
Natural variantiVAR_070754156W → R in SCN1. 1 Publication1
Natural variantiVAR_064513166A → T in SCN1; the patient also carries mutation Lys-116 in G6PC3. 2 PublicationsCorresponds to variant rs201788817dbSNPEnsembl.1
Natural variantiVAR_038622190 – 199Missing in SCN1 and CH. 1 Publication10
Natural variantiVAR_070755203G → C in SCN1 and CH. 2 Publications1
Natural variantiVAR_070756203G → R in SCN1. 2 Publications