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Results for the Protein: P35625
730948

TIMP3_HUMAN RecName: Full=Metalloproteinase inhibitor 3; AltName: Full=Protein MIG-5; AltName: Full=Tissue inhibitor of metalloproteinases 3; Short=TIMP-3; Flags: Precursor

Known Diseases associated with this Protein:
  SORSBY FUNDUS DYSTROPHY
  SORSBY FUNDUS DYSTROPHY (SFD)
  SORSBY FUNDUS DYSTROPHY, LAVIA TYPE
10
0
5
0
5
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NTR - smart00206


Swiss-Prot Protein: P35625
Identical to: NP_000353
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
NTRsmart002061.4e-12524194

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_008290Diseasep.GLY189CYSSorsby fundus dystrophy (SFD)
Swiss-ProtVAR_010901Diseasep.GLY190CYSSorsby fundus dystrophy (SFD)
Swiss-ProtVAR_007508Diseasep.SER179CYSSorsby fundus dystrophy (SFD)
Swiss-ProtVAR_007510Diseasep.SER204CYSSorsby fundus dystrophy (SFD)
Swiss-ProtVAR_007509Diseasep.TYR191CYSSorsby fundus dystrophy (SFD)
OMIM188826.0005 Diseasep.GLU139TERSORSBY FUNDUS DYSTROPHY
OMIM188826.0004 Diseasep.GLY166CYSSORSBY FUNDUS DYSTROPHY, LAVIA TYPE
OMIM188826.0003 Diseasep.SER156CYSSORSBY FUNDUS DYSTROPHY
OMIM188826.0001 Diseasep.SER181CYSSORSBY FUNDUS DYSTROPHY
OMIM188826.0002 Diseasep.TYR168CYSSORSBY FUNDUS DYSTROPHY



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