Home News About DMDM Database Statistics Research Publications Contact  

Results for the Protein: P28360
557952603

MSX1_HUMAN RecName: Full=Homeobox protein MSX-1; AltName: Full=Homeobox protein Hox-7; AltName: Full=Msh homeobox 1-like protein

Known Diseases associated with this Protein:
  NON-SYNDROMIC OROFACIAL CLEFT 5 (OFC5)
  OROFACIAL CLEFT 5
  TOOTH AGENESIS SELECTIVE 1 (STHAG1)
  TOOTH AGENESIS, SELECTIVE, 1
  TOOTH AGENESIS, SELECTIVE, WITH OR WITHOUT OROFACIAL CLEFT
  WITKOP SYNDROME
15
0
8
0
7
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:

HOX - smart00389
Homeobox - pfam00046
homeodomain - cd00086


Swiss-Prot Protein: P28360
Identical to: NP_002439
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Homeoboxpfam000465.8e-29173229
HOXsmart003891.5e-24173228

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_003754Diseasep.ARG202PROTooth agenesis selective 1 (STHAG1)
Swiss-ProtVAR_018395Diseasep.ARG157SERNon-syndromic orofacial cleft 5 (OFC5)
Swiss-ProtVAR_018391Diseasep.GLU84VALNon-syndromic orofacial cleft 5 (OFC5)
Swiss-ProtVAR_018392Diseasep.GLY97ASPNon-syndromic orofacial cleft 5 (OFC5)
Swiss-ProtVAR_018394Diseasep.GLY122GLUNon-syndromic orofacial cleft 5 (OFC5)
Swiss-ProtVAR_015712Diseasep.MET67LYSTooth agenesis selective 1 (STHAG1)
Swiss-ProtVAR_018393Diseasep.VAL120GLYNon-syndromic orofacial cleft 5 (OFC5)
OMIM142983.0001 Diseasep.ARG31PROTOOTH AGENESIS, SELECTIVE, 1
OMIM142983.0006 Diseasep.GLN187TERTOOTH AGENESIS, SELECTIVE, 1
OMIM142983.0004 Diseasep.GLU78VALOROFACIAL CLEFT 5
OMIM142983.0005 Diseasep.GLY116GLUOROFACIAL CLEFT 5
OMIM142983.0008 Diseasep.MET6LYSTOOTH AGENESIS, SELECTIVE, 1
OMIM142983.0007 Diseasep.PRO147GLNOROFACIAL CLEFT 5
OMIM142983.0002 Diseasep.SER105TERTOOTH AGENESIS, SELECTIVE, WITH OR WITHOUT OROFACIAL CLEFT
OMIM142983.0003 Diseasep.SER202TERWITKOP SYNDROME



   |   1000 Hilltop Circle, Baltimore, MD 21250   |   Department of Biological Sciences   |   Phone: 410-455-2258