Home News About DMDM Database Statistics Research Publications Contact  

Results for the Protein: P78562
2499917

PHEX_HUMAN RecName: Full=Phosphate-regulating neutral endopeptidase; AltName: Full=Metalloendopeptidase homolog PEX; AltName: Full=Vitamin D-resistant hypophosphatemic rickets protein; AltName: Full=X-linked hypophosphatemia protein; Short=HYP

Known Diseases associated with this Protein:
  HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT
  HYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT (XLHR)
36
0
6
0
30
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:

PepO - COG3590
Peptidase_M13_N - pfam05649
Peptidase_M13 - pfam01431


Swiss-Prot Protein: P78562
Identical to: NP_000435
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Peptidase_M13pfam014311.1e-68538748
Peptidase_M13_Npfam056492.1e-14877479

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_010629Diseasep.ALA573ASPHypophosphatemic rickets, X-linked dominant (XLHR)
Swiss-ProtVAR_010635Diseasep.ALA720THRHypophosphatemic rickets, X-linked dominant (XLHR)
Swiss-ProtVAR_006741Diseasep.ARG166CYSHypophosphatemic rickets, X-linked dominant (XLHR)
Swiss-ProtVAR_010628Diseasep.ARG567PROHypophosphatemic rickets, X-linked dominant (XLHR)
Swiss-ProtVAR_010631Diseasep.ARG651PROHypophosphatemic rickets, X-linked dominant (XLHR)
Swiss-ProtVAR_010633Diseasep.ASN680LYSHypophosphatemic rickets, X-linked dominant (XLHR)
Swiss-ProtVAR_010622Diseasep.ASP237GLYHypophosphatemic rickets, X-linked dominant (XLHR)
Swiss-ProtVAR_010618Diseasep.CYS85ARGHypophosphatemic rickets, X-linked dominant (XLHR)
Swiss-ProtVAR_010620Diseasep.CYS142PHEHypophosphatemic rickets, X-linked dominant (XLHR)
Swiss-ProtVAR_010617Diseasep.CYS85PHEHypophosphatemic rickets, X-linked dominant (XLHR)
Swiss-ProtVAR_010637Diseasep.CYS733SERHypophosphatemic rickets, X-linked dominant (XLHR)
Swiss-ProtVAR_006738Diseasep.CYS77SERHypophosphatemic rickets, X-linked dominant (XLHR)
Swiss-ProtVAR_010638Diseasep.CYS746TRPHypophosphatemic rickets, X-linked dominant (XLHR)
Swiss-ProtVAR_010634Diseasep.CYS693TYRHypophosphatemic rickets, X-linked dominant (XLHR)
Swiss-ProtVAR_006739Diseasep.CYS85TYRHypophosphatemic rickets, X-linked dominant (XLHR)
Swiss-ProtVAR_010630Diseasep.GLN621ARGHypophosphatemic rickets, X-linked dominant (XLHR)
Swiss-ProtVAR_006745Diseasep.GLY579ARGHypophosphatemic rickets, X-linked dominant (XLHR)
Swiss-ProtVAR_006746Diseasep.GLY579VALHypophosphatemic rickets, X-linked dominant (XLHR)
Swiss-ProtVAR_010621Diseasep.LEU160ARGHypophosphatemic rickets, X-linked dominant (XLHR)
Swiss-ProtVAR_006740Diseasep.LEU138PROHypophosphatemic rickets, X-linked dominant (XLHR)
Swiss-ProtVAR_010627Diseasep.LEU555PROHypophosphatemic rickets, X-linked dominant (XLHR)
Swiss-ProtVAR_006743Diseasep.MET253ILEHypophosphatemic rickets, X-linked dominant (XLHR)
Swiss-ProtVAR_006742Diseasep.PHE252SERHypophosphatemic rickets, X-linked dominant (XLHR)
Swiss-ProtVAR_010616Diseasep.PHE80SERHypophosphatemic rickets, X-linked dominant (XLHR)
Swiss-ProtVAR_010636Diseasep.PHE731TYRHypophosphatemic rickets, X-linked dominant (XLHR)
Swiss-ProtVAR_006744Diseasep.PRO534LEUHypophosphatemic rickets, X-linked dominant (XLHR)
Swiss-ProtVAR_010619Diseasep.SER141PROHypophosphatemic rickets, X-linked dominant (XLHR)
Swiss-ProtVAR_010639Diseasep.TRP749ARGHypophosphatemic rickets, X-linked dominant (XLHR)
Swiss-ProtVAR_010626Diseasep.TRP530CYSHypophosphatemic rickets, X-linked dominant (XLHR)
Swiss-ProtVAR_010623Diseasep.TYR317PHEHypophosphatemic rickets, X-linked dominant (XLHR)
OMIM300550.0010 Diseasep.ARG567TERHYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT
OMIM300550.0005 Diseasep.CYS82TYRHYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT
OMIM300550.0007 Diseasep.LEU555PROHYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT
OMIM300550.0004 Diseasep.LEU274TERHYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT
OMIM300550.0006 Diseasep.MET250ILEHYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT
OMIM300550.0006 Diseasep.PHE249SERHYPOPHOSPHATEMIC RICKETS, X-LINKED DOMINANT



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