Home News About DMDM Database Statistics Research Publications Contact  

Results for the Protein: Q99593
12644474

TBX5_HUMAN RecName: Full=T-box transcription factor TBX5; Short=T-box protein 5

Known Diseases associated with this Protein:
  HOLT-ORAM SYNDROME
  HOLT-ORAM SYNDROME (HOS)
12
0
7
0
5
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:

TBOX - cd00182
TBOX - smart00425
T-box - pfam00907


Swiss-Prot Protein: Q99593
Identical to: NP_000183, NP_852259
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
TBOXcd001827.5e-14353242
T-boxpfam009071.4e-12655239
TBOXsmart004255.7e-12754243

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_007456Diseasep.ARG237GLNHolt-Oram syndrome (HOS)
Swiss-ProtVAR_009702Diseasep.ARG237TRPHolt-Oram syndrome (HOS)
Swiss-ProtVAR_015381Diseasep.GLN49LYSHolt-Oram syndrome (HOS)
Swiss-ProtVAR_009701Diseasep.GLY80ARGHolt-Oram syndrome (HOS)
Swiss-ProtVAR_015382Diseasep.ILE54THRHolt-Oram syndrome (HOS)
OMIM601620.0003 Diseasep.ARG237GLNHOLT-ORAM SYNDROME
OMIM601620.0005 Diseasep.ARG237TRPHOLT-ORAM SYNDROME
OMIM601620.0007 Diseasep.GLN49LYSHOLT-ORAM SYNDROME
OMIM601620.0002 Diseasep.GLU69TERHOLT-ORAM SYNDROME
OMIM601620.0004 Diseasep.GLY80ARGHOLT-ORAM SYNDROME
OMIM601620.0008 Diseasep.ILE54THRHOLT-ORAM SYNDROME
OMIM601620.0009 Diseasep.TYR136TERHOLT-ORAM SYNDROME



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