Results for the protein: P08246

Results for the Protein: P08246

119292

1991

ELANE

NCBI, UniProt

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

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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 ↕
Trypsin	pfam00089	9.4e-81	30	242
Tryp_SPc	smart00020	1.4e-71	29	242

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_064513	Disease	p.ALA166THR	Neutropenia, severe congenital 1, autosomal dominant (SCN1)
Swiss-Prot	VAR_038610	Polymorphism	p.ALA57THR	N/A
Swiss-Prot	VAR_064512	Disease	p.ALA25VAL	Neutropenia, severe congenital 1, autosomal dominant (SCN1)
Swiss-Prot	VAR_009540	Disease	p.ARG191GLN	Cyclic haematopoiesis (CH)
Swiss-Prot	VAR_038612	Polymorphism	p.CYS71ARG	N/A
Swiss-Prot	VAR_038621	Polymorphism	p.CYS151SER	N/A
Swiss-Prot	VAR_038613	Polymorphism	p.CYS71SER	N/A
Swiss-Prot	VAR_038609	Polymorphism	p.CYS55TYR	N/A
Swiss-Prot	VAR_038625	Polymorphism	p.GLY214ARG	N/A
Swiss-Prot	VAR_038614	Polymorphism	p.GLY85GLU	N/A
Swiss-Prot	VAR_038624	Polymorphism	p.GLY210VAL	N/A
Swiss-Prot	VAR_009538	Disease	p.GLY32VAL	Cyclic haematopoiesis (CH)
Swiss-Prot	VAR_038611	Polymorphism	p.ILE60THR	N/A
Swiss-Prot	VAR_038623	Polymorphism	p.PRO205ARG	N/A
Swiss-Prot	VAR_038620	Polymorphism	p.PRO139LEU	N/A
Swiss-Prot	VAR_019238	Polymorphism	p.PRO257LEU	N/A
Swiss-Prot	VAR_019239	Polymorphism	p.PRO262LEU	N/A
Swiss-Prot	VAR_038619	Polymorphism	p.SER126LEU	N/A
Swiss-Prot	VAR_019237	Polymorphism	p.VAL219ILE	N/A
Swiss-Prot	VAR_038616	Polymorphism	p.VAL101LEU	N/A
Swiss-Prot	VAR_038615	Polymorphism	p.VAL98LEU	N/A
Swiss-Prot	VAR_038617	Polymorphism	p.VAL101MET	N/A
Swiss-Prot	VAR_009539	Disease	p.VAL177PHE	Cyclic haematopoiesis (CH)
OMIM	130130.0003	Disease	p.ALA32VAL	CYCLIC NEUTROPENIA
OMIM	130130.0001	Disease	p.ARG191GLN	CYCLIC NEUTROPENIA
OMIM	130130.0009	Disease	p.CYS42ARG	NEUTROPENIA, SEVERE CONGENITAL, 1, AUTOSOMAL DOMINANT
OMIM	130130.0011	Disease	p.GLY185ARG	NEUTROPENIA, SEVERE CONGENITAL, 1, AUTOSOMAL DOMINANT
OMIM	130130.0002	Disease	p.LEU177PHE	CYCLIC NEUTROPENIA
OMIM	130130.0006	Disease	p.PRO110LEU	NEUTROPENIA, SEVERE CONGENITAL, 1, AUTOSOMAL DOMINANT
OMIM	130130.0008	Disease	p.SER97LEU	NEUTROPENIA, SEVERE CONGENITAL, 1, AUTOSOMAL DOMINANT
OMIM	130130.0010	Disease	p.VAL69LEU	NEUTROPENIA, SEVERE CONGENITAL, 1, AUTOSOMAL DOMINANT
OMIM	130130.0010	Disease	p.VAL72LEU	NEUTROPENIA, SEVERE CONGENITAL, 1, AUTOSOMAL DOMINANT
OMIM	130130.0007	Disease	p.VAL72MET	NEUTROPENIA, SEVERE CONGENITAL, 1, AUTOSOMAL DOMINANT

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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