Home News About DMDM Database Statistics Research Publications Contact  

Results for the Protein: Q9UBX0
12230168

HESX1_HUMAN RecName: Full=Homeobox expressed in ES cells 1; AltName: Full=Homeobox protein ANF; Short=hAnf

Known Diseases associated with this Protein:
  GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES
  GROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES (GHDPA)
  PITUITARY HORMONE DEFICIENCY, COMBINED, 5
  PITUITARY HORMONE DEFICIENCY, COMBINED, 5 (CPHD5)
  SEPTOOPTIC DYSPLASIA
  SEPTOOPTIC DYSPLASIA (SOD)
  SEPTOOPTIC DYSPLASIA, MILD
12
1
6
1
6
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


Swiss-Prot Protein: Q9UBX0
Identical to: NP_003856
   Default View:



Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
HOXsmart003891e-26109164

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_010225Diseasep.ARG160CYSSeptooptic dysplasia (SOD)
dbSNPrs9878928 Polymorphismp.ASN125SERN/A
Swiss-ProtVAR_063230Diseasep.GLN6HISPituitary hormone deficiency, combined, 5 (CPHD5)
Swiss-ProtVAR_063232Diseasep.GLU149LYSGrowth hormone deficiency with pituitary anomalies (GHDPA)
Swiss-ProtVAR_063231Diseasep.ILE26THRPituitary hormone deficiency, combined, 5 (CPHD5)
Swiss-ProtVAR_063233Diseasep.SER170LEUSeptooptic dysplasia (SOD)
Swiss-ProtVAR_063234Diseasep.THR181ALAGrowth hormone deficiency with pituitary anomalies (GHDPA)
OMIM601802.0001 Diseasep.ARG160CYSSEPTOOPTIC DYSPLASIA
OMIM601802.0010 Diseasep.GLN6HISPITUITARY HORMONE DEFICIENCY, COMBINED, 5
OMIM601802.0009 Diseasep.GLU149LYSGROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES
OMIM601802.0005 Diseasep.ILE26THRPITUITARY HORMONE DEFICIENCY, COMBINED, 5
OMIM601802.0002 Diseasep.SER170LEUSEPTOOPTIC DYSPLASIA, MILD
OMIM601802.0003 Diseasep.THR181ALAGROWTH HORMONE DEFICIENCY WITH PITUITARY ANOMALIES



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