Results for the protein: O00187

Results for the Protein: O00187

317373573

10747

MASP2

NCBI, UniProt

MASP2_HUMAN RecName: Full=Mannan-binding lectin serine protease 2; AltName: Full=MBL-associated serine protease 2; AltName: Full=Mannose-binding protein-associated serine protease 2; Short=MASP-2; Contains: RecName: Full=Mannan-binding lectin serine protease 2 A chain; Contains: RecName: Full=Mannan-binding lectin serine protease 2 B chain; Flags: Precursor

Known Diseases associated with this Protein:
MASP2 DEFICIENCY
MASP2 DEFICIENCY (MASPD)

3

7

1

6

3

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: CUB - pfam00431 CUB - cd00041 CUB - smart00042 EGF_CA - smart00179 EGF_CA - pfam07645 EGF_CA - cd00054 EGF - cd00053 EGF - smart00181 CCP - smart00032 Sushi - pfam00084 CCP - cd00033 Tryp_SPc - smart00020 Tryp_SPc - cd00190 Trypsin - pfam00089	Swiss-Prot Protein: O00187 Identical to: NP_006601 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
EGF_CA	cd00054	3.3e-11	138	181
EGF	cd00053	4.3e-06	141	181
CUB	cd00041	1.1e-33	184	295
CCP	cd00033	1.2e-13	300	362
CCP	cd00033	4.6e-08	366	431
Tryp_SPc	cd00190	1.5e-93	445	682
CUB	pfam00431	9.6e-12	11	134
CUB	pfam00431	1.3e-39	184	293
Sushi	pfam00084	2.1e-09	300	361
Sushi	pfam00084	9.1e-08	366	430
Trypsin	pfam00089	9.4e-68	445	679
CUB	smart00042	5.6e-36	28	134
EGF_CA	pfam07645	0.00016	138	180
EGF_CA	smart00179	9.9e-13	138	181
EGF	smart00181	4.9e-07	141	181
CUB	smart00042	6.2e-33	194	293
CCP	smart00032	2.6e-13	300	361
CCP	smart00032	4.7e-08	366	430
Tryp_SPc	smart00020	3.1e-92	444	679

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_025345	Polymorphism	p.ARG118CYS	N/A
dbSNP	rs61735600	Polymorphism	p.ARG99GLN	N/A
dbSNP	rs12085877	Polymorphism	p.ARG439HIS	N/A
Swiss-Prot	VAR_025346	Disease	p.ASP120GLY	MASP2 deficiency (MASPD)
dbSNP	rs12711521	Polymorphism	p.ASP371TYR	N/A
dbSNP	rs2273343	Polymorphism	p.HIS155ARG	N/A
dbSNP	rs56392418	Polymorphism	p.PRO126LEU	N/A
Swiss-Prot	VAR_025347	Disease	p.PRO126LEU	MASP2 deficiency (MASPD)
dbSNP	rs2273346	Polymorphism	p.VAL377ALA	N/A
OMIM	605102.0001	Disease	p.ASP105GLY	MASP2 DEFICIENCY

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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