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Results for the Protein: P35548
311033429

MSX2_HUMAN RecName: Full=Homeobox protein MSX-2; AltName: Full=Homeobox protein Hox-8

Known Diseases associated with this Protein:
  CRANIOSYNOSTOSIS 2
  CRANIOSYNOSTOSIS 2 (CRS2)
  PARIETAL FORAMINA 1
  PARIETAL FORAMINA 1 (PFM1)
7
2
4
2
3
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HOX - smart00389


Swiss-Prot Protein: P35548
Identical to: NP_002440
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
HOXsmart003893.8e-25143198

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_010201Diseasep.ARG172HISParietal foramina 1 (PFM1)
Swiss-ProtVAR_010786Diseasep.LEU154PROParietal foramina 1 (PFM1)
dbSNPrs4242182 Polymorphismp.MET129THRN/A
Swiss-ProtVAR_003755Diseasep.PRO148HISCraniosynostosis 2 (CRS2)
dbSNPrs61743524 Polymorphismp.TRP189LEUN/A
OMIM123101.0005 Diseasep.ALA89TERPARIETAL FORAMINA 1
OMIM123101.0003 Diseasep.ARG172HISPARIETAL FORAMINA 1
OMIM123101.0001 Diseasep.PRO148HISCRANIOSYNOSTOSIS 2
OMIM123101.0006 Diseasep.TRP115TERPARIETAL FORAMINA 1



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