Results for the protein: Q9NZW4

Results for the Protein: Q9NZW4

215273974

1834

DSPP

NCBI, UniProt

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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Default View:	Swiss-Prot Protein: Q9NZW4 Identical to: NP_055023 Default View:

Domains found on the Protein

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

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_036862	Disease	p.ALA15VAL	Dentinogenesis imperfecta, Shields type 2 (DGI2)
dbSNP	rs36094464	Disease	p.ARG68TRP	Dentinogenesis imperfecta, Shields type 2 (DGI2)
dbSNP	rs3750025	Polymorphism	p.ASP243ASN	N/A
dbSNP	rs116385272	Polymorphism	p.GLY850SER	N/A
dbSNP	rs61738508	Polymorphism	p.GLY268TRP	N/A
dbSNP	rs61731009	Polymorphism	p.ILE131THR	N/A
Swiss-Prot	VAR_070252	Disease	p.PRO17LEU	Dentinogenesis imperfecta, Shields type 3 (DGI3)
Swiss-Prot	VAR_054443	Polymorphism	p.PRO17SER	N/A
Swiss-Prot	VAR_012280	Disease	p.PRO17THR	Deafness, autosomal dominant, 39, with dentinogenesis imperfecta 1 (DFNA39/DGI1)
dbSNP	rs61738509	Polymorphism	p.PRO231THR	N/A
Swiss-Prot	VAR_036861	Disease	p.TYR6ASP	Dentin dysplasia 2 (DTDP2)
Swiss-Prot	VAR_070253	Disease	p.VAL18ASP	Dentinogenesis imperfecta, Shields type 2 (DGI2)
Swiss-Prot	VAR_012281	Disease	p.VAL18PHE	Dentinogenesis imperfecta, Shields type 3 (DGI3)
OMIM	125485.0007	Disease	p.ALA15VAL	DENTINOGENESIS IMPERFECTA, SHIELDS TYPE II
OMIM	125485.0006	Disease	p.ARG68TRP	DENTINOGENESIS IMPERFECTA, SHIELDS TYPE II
OMIM	125485.0005	Disease	p.ASP6TYR	DENTIN DYSPLASIA, TYPE II
OMIM	125485.0001	Disease	p.GLN45TER	DENTINOGENESIS IMPERFECTA, SHIELDS TYPE II
OMIM	125485.0003	Disease	p.PRO17THR	DEAFNESS, AUTOSOMAL DOMINANT NONSYNDROMIC SENSORINEURAL 39, WITH DENTINOGENESIS\|\|IMPERFECTA 1

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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