Results for the protein: P14780

Results for the Protein: P14780

269849668

4318

MMP9

NCBI, UniProt

MMP9_HUMAN RecName: Full=Matrix metalloproteinase-9; Short=MMP-9; AltName: Full=92 kDa gelatinase; AltName: Full=92 kDa type IV collagenase; AltName: Full=Gelatinase B; Short=GELB; Contains: RecName: Full=67 kDa matrix metalloproteinase-9; Contains: RecName: Full=82 kDa matrix metalloproteinase-9; Flags: Precursor

Known Diseases associated with this Protein:
METAPHYSEAL ANADYSPLASIA 2, AUTOSOMAL RECESSIVE

1

9

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: PG_binding_1 - pfam01471 ZnMc - smart00235 ZnMc_MMP - cd04278 Peptidase_M10 - pfam00413 FN2 - smart00059 FN2 - cd00062 fn2 - pfam00040 ZnMc_MMP_like_1 - cd04279 PT - pfam04886 HX - cd00094 HX - smart00120 Hemopexin - pfam00045	Swiss-Prot Protein: P14780 Identical to: NP_004985 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
FN2	cd00062	1.9e-28	224	271
FN2	cd00062	6.1e-29	282	329
ZnMc_MMP_like_1	cd04279	7.5e-05	289	444
FN2	cd00062	1.4e-27	341	388
HX	cd00094	1.1e-75	513	704
PG_binding_1	pfam01471	0.00037	38	94
Peptidase_M10	pfam00413	5.2e-188	115	444
fn2	pfam00040	5.9e-25	230	271
fn2	pfam00040	8.5e-26	288	329
fn2	pfam00040	1.6e-27	347	388
PT	pfam04886	1.9e-09	472	507
Hemopexin	pfam00045	8.9e-15	521	565
Hemopexin	pfam00045	3.8e-07	567	608
Hemopexin	pfam00045	1.2e-08	613	656
Hemopexin	pfam00045	6.4e-05	661	704
ZnMc	smart00235	5.7e-45	112	381
FN2	smart00059	2.1e-29	223	271
FN2	smart00059	3.9e-30	281	329
FN2	smart00059	8.8e-29	340	388
HX	smart00120	1.3e-11	521	565
HX	smart00120	2.6e-05	567	608
HX	smart00120	1.1e-08	613	659
HX	smart00120	4.3e-05	661	704

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs1805088	Polymorphism	p.ALA20VAL	N/A
dbSNP	rs17577	Polymorphism	p.ARG668GLN	N/A
Swiss-Prot	VAR_025165	Polymorphism	p.ARG239HIS	N/A
dbSNP	rs2250889	Polymorphism	p.ARG574PRO	N/A
dbSNP	rs3918252	Polymorphism	p.ASN127LYS	N/A
dbSNP	rs41427445	Polymorphism	p.ASN38SER	N/A
dbSNP	rs17576	Polymorphism	p.GLN279ARG	N/A
Swiss-Prot	VAR_013781	Polymorphism	p.GLU82LYS	N/A
Swiss-Prot	VAR_025166	Polymorphism	p.PHE571VAL	N/A
OMIM	120361.0001	Disease	p.MET1LYS	METAPHYSEAL ANADYSPLASIA 2, AUTOSOMAL RECESSIVE

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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