Results for the protein: NP

Results for the Protein: NP_624302

21264359

5648

MASP1

NCBI

mannan-binding lectin serine protease 1 isoform 2 precursor [Homo sapiens]

Known Diseases associated with this Protein:
3MC SYNDROME 1

5

1

5

1

0

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	RefSeq Protein: NP_624302 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	1e-78	450	714
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	1.5e-66	450	711
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	8.3e-81	449	711

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs72549154	Polymorphism	p.ARG576MET	N/A
OMIM	600521.0002	Disease	p.CYS630ARG	3MC SYNDROME 1
OMIM	600521.0004	Disease	p.GLY687ARG	3MC SYNDROME 1
OMIM	600521.0003	Disease	p.GLY666GLU	3MC SYNDROME 1
OMIM	600521.0001	Disease	p.HIS497TYR	3MC SYNDROME 1
OMIM	600521.0005	Disease	p.TRP290TER	3MC SYNDROME 1

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