Skip Header

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

P08246

- ELNE_HUMAN

UniProt

P08246 - ELNE_HUMAN

(max 400 entries)x

Your basket is currently empty.

Select item(s) and click on "Add to basket" to create your own collection here
(400 entries max)

Protein

Neutrophil elastase

Gene

ELANE

Organism
Homo sapiens (Human)
Status
Reviewed - 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)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. RNA polymerase II transcription corepressor activity Source: UniProt
  7. 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
Complete GO annotation...

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.
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: UniProtKB
  5. secretory granule Source: MGI
  6. transcriptional repressor complex Source: UniProt
Complete GO annotation...

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. 1 Publication
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. 1 Publication
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. 1 Publication
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

BgeeiP08246.
CleanExiHS_ELA2.
ExpressionAtlasiP08246. baseline and differential.
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 – 496Combined sources
Beta strandi52 – 6110Combined sources
Beta strandi64 – 674Combined sources
Helixi69 – 724Combined sources
Helixi77 – 793Combined sources
Beta strandi81 – 855Combined sources
Beta strandi97 – 10711Combined sources
Turni111 – 1144Combined sources
Beta strandi119 – 1257Combined sources
Beta strandi130 – 1323Combined sources
Beta strandi150 – 1589Combined sources
Beta strandi160 – 1623Combined sources
Beta strandi170 – 1778Combined sources
Beta strandi185 – 1895Combined sources
Beta strandi191 – 1933Combined sources
Beta strandi205 – 2084Combined sources
Beta strandi211 – 22212Combined sources
Beta strandi226 – 2283Combined sources
Beta strandi230 – 2345Combined sources
Helixi235 – 2384Combined sources
Helixi239 – 2468Combined sources

3D structure databases

Select the link destinations:
PDBei
RCSB PDBi
PDBji
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[»]
4NZLX-ray1.85A30-247[»]
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.
GeneTreeiENSGT00760000118895.
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

        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 CAA29300.1 differs from that shown. Reason: Erroneous initiation. Curated

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. 1 Publication
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. 1 Publication
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