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Results for the Protein: P08253
116856

MMP2_HUMAN RecName: Full=72 kDa type IV collagenase; AltName: Full=72 kDa gelatinase; AltName: Full=Gelatinase A; AltName: Full=Matrix metalloproteinase-2; Short=MMP-2; AltName: Full=TBE-1; Contains: RecName: Full=PEX; Flags: Precursor

Known Diseases associated with this Protein:
  MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY
  MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY (MONA)
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Default View:

ZnMc - smart00235
ZnMc_MMP - cd04278
Peptidase_M10 - pfam00413
FN2 - smart00059
FN2 - cd00062
fn2 - pfam00040
ZnMc_MMP_like_1 - cd04279
HX - cd00094
HX - smart00120
Hemopexin - pfam00045


Swiss-Prot Protein: P08253
Identical to: NP_004521
   Default View:









Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
ZnMc_MMPcd042785.6e-218118446
FN2cd000625.9e-27227274
FN2cd000626.7e-28285332
ZnMc_MMP_like_1cd042790.00076311446
FN2cd000621.6e-31343390
HXcd000941.7e-95466660
Peptidase_M10pfam004131.6e-206118446
fn2pfam000406.5e-25233274
fn2pfam000402.6e-24291332
fn2pfam000401.5e-27349390
Hemopexinpfam000458.1e-10475518
Hemopexinpfam000453.5e-13520563
Hemopexinpfam000451.8e-18568615
Hemopexinpfam000457.5e-06617660
ZnMcsmart002359.6e-51115383
FN2smart000595.3e-29226274
FN2smart000592.7e-29284332
FN2smart000592.3e-33342390
HXsmart001204.3e-06475518
HXsmart001204.3e-11520563
HXsmart001202.8e-17568615
HXsmart001208e-07617660

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_036136Polymorphismp.ALA228THRN/A
Swiss-ProtVAR_020616Polymorphismp.ALA447VALN/A
Swiss-ProtVAR_032423Diseasep.ARG101HISMulticentric osteolysis, nodulosis, and arthropathy (MONA)
Swiss-ProtVAR_032424Polymorphismp.ASP210TYRN/A
Swiss-ProtVAR_032425Diseasep.GLU404LYSMulticentric osteolysis, nodulosis, and arthropathy (MONA)
dbSNPrs59727333 Polymorphismp.MET409ILEN/A
Swiss-ProtVAR_036138Polymorphismp.SER644ILEN/A
Swiss-ProtVAR_036137Polymorphismp.THR498METN/A
Swiss-ProtVAR_020617Polymorphismp.VAL621LEUN/A
OMIM120360.0001 Diseasep.ARG101HISMULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY
OMIM120360.0003 Diseasep.GLU404LYSMULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY
OMIM120360.0002 Diseasep.TYR244TERMULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY



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