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Results for the Protein: Q9NZW4
215273974

DSPP_HUMAN RecName: Full=Dentin sialophosphoprotein; Contains: RecName: Full=Dentin phosphoprotein; AltName: Full=Dentin phosphophoryn; Short=DPP; Contains: RecName: Full=Dentin sialoprotein; Short=DSP; Flags: Precursor

Known Diseases associated with this Protein:
  DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 39, WITH DENTINOGENESIS
  DEAFNESS, AUTOSOMAL DOMINANT, 39, WITH DENTINOGENESIS IMPERFECTA 1 (DFNA39/DGI1)
  DENTIN DYSPLASIA 2 (DTDP2)
  DENTIN DYSPLASIA, TYPE II
  DENTINOGENESIS IMPERFECTA, SHIELDS TYPE 2 (DGI2)
  DENTINOGENESIS IMPERFECTA, SHIELDS TYPE 3 (DGI3)
  DENTINOGENESIS IMPERFECTA, SHIELDS TYPE II
  IMPERFECTA 1
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Swiss-Prot Protein: Q9NZW4
Identical to: NP_055023
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
NO_DOMAIN_FOUND00

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_036862Diseasep.ALA15VALDentinogenesis imperfecta, Shields type 2 (DGI2)
dbSNPrs36094464 Diseasep.ARG68TRPDentinogenesis imperfecta, Shields type 2 (DGI2)
dbSNPrs3750025 Polymorphismp.ASP243ASNN/A
dbSNPrs116385272 Polymorphismp.GLY850SERN/A
dbSNPrs61738508 Polymorphismp.GLY268TRPN/A
dbSNPrs61731009 Polymorphismp.ILE131THRN/A
Swiss-ProtVAR_070252Diseasep.PRO17LEUDentinogenesis imperfecta, Shields type 3 (DGI3)
Swiss-ProtVAR_054443Polymorphismp.PRO17SERN/A
Swiss-ProtVAR_012280Diseasep.PRO17THRDeafness, autosomal dominant, 39, with dentinogenesis imperfecta 1 (DFNA39/DGI1)
dbSNPrs61738509 Polymorphismp.PRO231THRN/A
Swiss-ProtVAR_036861Diseasep.TYR6ASPDentin dysplasia 2 (DTDP2)
Swiss-ProtVAR_070253Diseasep.VAL18ASPDentinogenesis imperfecta, Shields type 2 (DGI2)
Swiss-ProtVAR_012281Diseasep.VAL18PHEDentinogenesis imperfecta, Shields type 3 (DGI3)
OMIM125485.0007 Diseasep.ALA15VALDENTINOGENESIS IMPERFECTA, SHIELDS TYPE II
OMIM125485.0006 Diseasep.ARG68TRPDENTINOGENESIS IMPERFECTA, SHIELDS TYPE II
OMIM125485.0005 Diseasep.ASP6TYRDENTIN DYSPLASIA, TYPE II
OMIM125485.0001 Diseasep.GLN45TERDENTINOGENESIS IMPERFECTA, SHIELDS TYPE II
OMIM125485.0003 Diseasep.PRO17THRDEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 39, WITH DENTINOGENESIS||IMPERFECTA 1



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