Results for the protein: P48740

Results for the Protein: P48740

218512135

5648

MASP1

NCBI, UniProt

MASP1_HUMAN RecName: Full=Mannan-binding lectin serine protease 1; AltName: Full=Complement factor MASP-3; AltName: Full=Complement-activating component of Ra-reactive factor; AltName: Full=Mannose-binding lectin-associated serine protease 1; Short=MASP-1; AltName: Full=Mannose-binding protein-associated serine protease; AltName: Full=Ra-reactive factor serine protease p100; Short=RaRF; AltName: Full=Serine protease 5; Contains: RecName: Full=Mannan-binding lectin serine protease 1 heavy chain; Contains: RecName: Full=Mannan-binding lectin serine protease 1 light chain; Flags: Precursor

Known Diseases associated with this Protein:
3MC SYNDROME 1

5

3

5

1

2

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 - cd00041 CUB - pfam00431 CUB - smart00042 EGF_CA - smart00179 EGF_CA - cd00054 EGF - smart00181 EGF - cd00053 CCP - smart00032 Sushi - pfam00084 CCP - cd00033 Tryp_SPc - smart00020 Tryp_SPc - cd00190 Trypsin - pfam00089	Swiss-Prot Protein: P48740 Identical to: NP_001870 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
EGF_CA	cd00054	6.6e-09	139	182
EGF	cd00053	5.9e-05	142	182
CUB	cd00041	9.7e-41	185	296
CCP	cd00033	5.1e-16	301	363
CCP	cd00033	3.1e-12	367	433
Tryp_SPc	cd00190	1.6e-100	449	694
CUB	pfam00431	5.8e-18	20	135
CUB	pfam00431	8.4e-54	185	294
Sushi	pfam00084	1.2e-08	301	362
Sushi	pfam00084	6e-05	367	432
Trypsin	pfam00089	1.2e-91	449	691
CUB	smart00042	3.7e-37	29	135
EGF_CA	smart00179	4.9e-10	139	182
EGF	smart00181	7.1e-05	142	182
CUB	smart00042	3.8e-39	195	294
CCP	smart00032	2.6e-15	301	362
CCP	smart00032	6.5e-14	367	432
Tryp_SPc	smart00020	6.1e-102	448	691

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_051833	Polymorphism	p.GLY679ARG	N/A
Swiss-Prot	VAR_051831	Polymorphism	p.THR21ILE	N/A
dbSNP	rs13322090	Polymorphism	p.VAL568ALA	N/A
OMIM	600521.0002	Disease	p.CYS1ARG	3MC SYNDROME 1
OMIM	600521.0004	Disease	p.GLY1ARG	3MC SYNDROME 1
OMIM	600521.0003	Disease	p.GLY1GLU	3MC SYNDROME 1
OMIM	600521.0001	Disease	p.HIS1TYR	3MC SYNDROME 1
OMIM	600521.0005	Disease	p.TRP290TER	3MC SYNDROME 1

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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