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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
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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 ↕
homeodomaincd000862.3e-24173231
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



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