Results for the protein: P45452

Results for the Protein: P45452

1168998

4322

MMP13

NCBI, UniProt

MMP13_HUMAN RecName: Full=Collagenase 3; AltName: Full=Matrix metalloproteinase-13; Short=MMP-13; Flags: Precursor

Known Diseases associated with this Protein:
  METAPHYSEAL ANADYSPLASIA 1 (MANDP1)
  METAPHYSEAL ANADYSPLASIA 1, AUTOSOMAL DOMINANT
  METAPHYSEAL ANADYSPLASIA 1, AUTOSOMAL RECESSIVE
  SPONDYLOEPIMETAPHYSEAL DYSPLASIA MISSOURI TYPE (SEMD-MO)
  SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE

8

2

4

1

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_MMP_like_1 - cd04279 ZnMc - smart00235 Peptidase_M10 - pfam00413 ZnMc_MMP - cd04278 ZnMc_serralysin_like - cd04277 ZnMc_MMP_like - cd04268 ZnMc - cd00203 HX - cd00094 HX - smart00120 Hemopexin - pfam00045	Swiss-Prot Protein: P45452 Identical to: NP_002418 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
ZnMc_MMP	cd04278	8e-92	112	267
ZnMc_MMP_like	cd04268	3.5e-05	115	266
ZnMc_serralysin_like	cd04277	2.6e-07	115	267
ZnMc	cd00203	5.9e-12	116	266
HX	cd00094	3.6e-96	281	471
PG_binding_1	pfam01471	5.5e-11	32	91
Peptidase_M10	pfam00413	1.2e-98	112	267
Hemopexin	pfam00045	2.5e-10	290	332
Hemopexin	pfam00045	1.4e-13	334	377
Hemopexin	pfam00045	8.6e-16	382	429
Hemopexin	pfam00045	1.4e-05	431	471
ZnMc	smart00235	3.3e-56	109	268
HX	smart00120	2.7e-09	290	332
HX	smart00120	1.9e-11	334	377
HX	smart00120	5.7e-17	382	429
HX	smart00120	0.00056	431	471

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs17860568	Polymorphism	p.ASP390GLY	N/A
Swiss-Prot	VAR_063434	Disease	p.HIS232ASN	Metaphyseal anadysplasia 1 (MANDP1)
Swiss-Prot	VAR_011971	Polymorphism	p.HIS2LEU	N/A
Swiss-Prot	VAR_063433	Disease	p.MET91THR	Metaphyseal anadysplasia 1 (MANDP1)
Swiss-Prot	VAR_063432	Disease	p.PHE74SER	Metaphyseal anadysplasia 1 (MANDP1)
Swiss-Prot	VAR_032753	Disease	p.PHE75SER	Spondyloepimetaphyseal dysplasia Missouri type (SEMD-MO)
OMIM	600108.0004	Disease	p.HIS213ASN	METAPHYSEAL ANADYSPLASIA 1, AUTOSOMAL RECESSIVE
OMIM	600108.0003	Disease	p.MET72THR	METAPHYSEAL ANADYSPLASIA 1, AUTOSOMAL DOMINANT
OMIM	600108.0002	Disease	p.PHE55SER	METAPHYSEAL ANADYSPLASIA 1, AUTOSOMAL DOMINANT
OMIM	600108.0001	Disease	p.PHE56SER	SPONDYLOEPIMETAPHYSEAL DYSPLASIA, MISSOURI TYPE

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.

DMDM_info@umbc.edu | 1000 Hilltop Circle, Baltimore, MD 21250 | Department of Biological Sciences | Phone: 410-455-2258