Results for the protein: P50281

Results for the Protein: P50281

317373419

4323

MMP14

NCBI, UniProt

MMP14_HUMAN RecName: Full=Matrix metalloproteinase-14; Short=MMP-14; AltName: Full=MMP-X1; AltName: Full=Membrane-type matrix metalloproteinase 1; Short=MT-MMP 1; Short=MTMMP1; AltName: Full=Membrane-type-1 matrix metalloproteinase; Short=MT1-MMP; Short=MT1MMP; Flags: Precursor

Known Diseases associated with this Protein:
WINCHESTER SYNDROME (1 FAMILY)

1

8

1

3

5

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 Peptidase_M10 - pfam00413 ZnMc_MMP - cd04278 ZnMc_MMP_like - cd04268 ZnMc_serralysin_like - cd04277 ZnMc_MMP_like_1 - cd04279 ZnMc - cd00203 HX - cd00094 HX - smart00120 Hemopexin - pfam00045 DUF3377 - pfam11857	Swiss-Prot Protein: P50281 Identical to: NP_004986 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
ZnMc_serralysin_like	cd04277	2.1e-07	121	284
ZnMc_MMP_like_1	cd04279	2.3e-12	121	284
ZnMc_MMP_like	cd04268	1.2e-05	121	283
ZnMc	cd00203	1.1e-15	122	283
HX	cd00094	2.3e-91	316	508
PG_binding_1	pfam01471	5.8e-09	28	88
Peptidase_M10	pfam00413	1.2e-95	118	284
Hemopexin	pfam00045	2.1e-14	323	366
Hemopexin	pfam00045	1.7e-15	368	412
Hemopexin	pfam00045	6e-16	415	461
Hemopexin	pfam00045	4.2e-12	463	508
ZnMc	smart00235	1.5e-67	115	285
HX	smart00120	9e-11	323	366
HX	smart00120	2.8e-13	368	412
HX	smart00120	6.7e-16	415	461
HX	smart00120	1.6e-10	463	510
DUF3377	pfam11857	3.2e-42	508	582

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs17882219	Polymorphism	p.ALA4THR	N/A
Swiss-Prot	VAR_031267	Polymorphism	p.ARG431HIS	N/A
Swiss-Prot	VAR_021030	Polymorphism	p.ARG6LYS	N/A
Swiss-Prot	VAR_021034	Polymorphism	p.ARG302TRP	N/A
dbSNP	rs1042704	Polymorphism	p.ASP273ASN	N/A
Swiss-Prot	VAR_021032	Polymorphism	p.ILE233VAL	N/A
Swiss-Prot	VAR_021035	Polymorphism	p.MET355ILE	N/A
dbSNP	rs1042703	Polymorphism	p.PRO8SER	N/A
OMIM	600754.0001	Disease	p.THR17ARG	WINCHESTER SYNDROME (1 family)

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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