Home News About DMDM Database Statistics Research Publications Contact  

Results for the Protein: P08246
119292

ELNE_HUMAN RecName: Full=Neutrophil elastase; AltName: Full=Bone marrow serine protease; AltName: Full=Elastase-2; AltName: Full=Human leukocyte elastase; Short=HLE; AltName: Full=Medullasin; AltName: Full=PMN elastase; Flags: Precursor

Known Diseases associated with this Protein:
  CYCLIC HAEMATOPOIESIS (CH)
  CYCLIC NEUTROPENIA
  NEUTROPENIA, SEVERE CONGENITAL 1, AUTOSOMAL DOMINANT (SCN1)
  NEUTROPENIA, SEVERE CONGENITAL, 1, AUTOSOMAL DOMINANT
15
18
10
0
23
Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

 Clicking a check box will display or hide the correlated domain.

 To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.



Default View:

Tryp_SPc - smart00020
Trypsin - pfam00089
Tryp_SPc - cd00190


Swiss-Prot Protein: P08246
Identical to: NP_001963
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Tryp_SPccd001902.2e-8030245
Trypsinpfam000899.4e-8130242
Tryp_SPcsmart000201.4e-7129242

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_064513Diseasep.ALA166THRNeutropenia, severe congenital 1, autosomal dominant (SCN1)
Swiss-ProtVAR_038610Polymorphismp.ALA57THRN/A
Swiss-ProtVAR_064512Diseasep.ALA25VALNeutropenia, severe congenital 1, autosomal dominant (SCN1)
Swiss-ProtVAR_009540Diseasep.ARG191GLNCyclic haematopoiesis (CH)
Swiss-ProtVAR_038612Polymorphismp.CYS71ARGN/A
Swiss-ProtVAR_038621Polymorphismp.CYS151SERN/A
Swiss-ProtVAR_038613Polymorphismp.CYS71SERN/A
Swiss-ProtVAR_038609Polymorphismp.CYS55TYRN/A
Swiss-ProtVAR_038625Polymorphismp.GLY214ARGN/A
Swiss-ProtVAR_038614Polymorphismp.GLY85GLUN/A
Swiss-ProtVAR_038624Polymorphismp.GLY210VALN/A
Swiss-ProtVAR_009538Diseasep.GLY32VALCyclic haematopoiesis (CH)
Swiss-ProtVAR_038611Polymorphismp.ILE60THRN/A
Swiss-ProtVAR_038623Polymorphismp.PRO205ARGN/A
Swiss-ProtVAR_038620Polymorphismp.PRO139LEUN/A
Swiss-ProtVAR_019238Polymorphismp.PRO257LEUN/A
Swiss-ProtVAR_019239Polymorphismp.PRO262LEUN/A
Swiss-ProtVAR_038619Polymorphismp.SER126LEUN/A
Swiss-ProtVAR_019237Polymorphismp.VAL219ILEN/A
Swiss-ProtVAR_038616Polymorphismp.VAL101LEUN/A
Swiss-ProtVAR_038615Polymorphismp.VAL98LEUN/A
Swiss-ProtVAR_038617Polymorphismp.VAL101METN/A
Swiss-ProtVAR_009539Diseasep.VAL177PHECyclic haematopoiesis (CH)
OMIM130130.0003 Diseasep.ALA32VALCYCLIC NEUTROPENIA
OMIM130130.0001 Diseasep.ARG191GLNCYCLIC NEUTROPENIA
OMIM130130.0009 Diseasep.CYS42ARGNEUTROPENIA, SEVERE CONGENITAL, 1, AUTOSOMAL DOMINANT
OMIM130130.0011 Diseasep.GLY185ARGNEUTROPENIA, SEVERE CONGENITAL, 1, AUTOSOMAL DOMINANT
OMIM130130.0002 Diseasep.LEU177PHECYCLIC NEUTROPENIA
OMIM130130.0006 Diseasep.PRO110LEUNEUTROPENIA, SEVERE CONGENITAL, 1, AUTOSOMAL DOMINANT
OMIM130130.0008 Diseasep.SER97LEUNEUTROPENIA, SEVERE CONGENITAL, 1, AUTOSOMAL DOMINANT
OMIM130130.0010 Diseasep.VAL69LEUNEUTROPENIA, SEVERE CONGENITAL, 1, AUTOSOMAL DOMINANT
OMIM130130.0010 Diseasep.VAL72LEUNEUTROPENIA, SEVERE CONGENITAL, 1, AUTOSOMAL DOMINANT
OMIM130130.0007 Diseasep.VAL72METNEUTROPENIA, SEVERE CONGENITAL, 1, AUTOSOMAL DOMINANT



   |   1000 Hilltop Circle, Baltimore, MD 21250   |   Department of Biological Sciences   |   Phone: 410-455-2258