Home News About DMDM Database Statistics Research Publications Contact  

Results for the Protein: O95076
215273931
257

ALX3_HUMAN RecName: Full=Homeobox protein aristaless-like 3; AltName: Full=Proline-rich transcription factor ALX3

Known Diseases associated with this Protein:
  FRONTONASAL DYSPLASIA 1
  FRONTONASAL DYSPLASIA 1 (FND1)
9
1
5
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:

COG5576 - COG5576
HOX - smart00389
Homeobox - pfam00046
homeodomain - cd00086


Swiss-Prot Protein: O95076
Identical to: NP_006483
   Default View:






Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
COG5576COG55763.1e-05101248
Homeoboxpfam000461.6e-32154210
HOXsmart003895.7e-27154209

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_063227Diseasep.ARG183TRPFrontonasal dysplasia 1 (FND1)
Swiss-ProtVAR_063228Diseasep.ARG196TRPFrontonasal dysplasia 1 (FND1)
Swiss-ProtVAR_063229Diseasep.ASN203SERFrontonasal dysplasia 1 (FND1)
Swiss-ProtVAR_063226Diseasep.LEU168VALFrontonasal dysplasia 1 (FND1)
Swiss-ProtVAR_047475Polymorphismp.PRO234ALAN/A
OMIM606014.0004 Diseasep.ARG183TRPFRONTONASAL DYSPLASIA 1
OMIM606014.0007 Diseasep.ARG196TRPFRONTONASAL DYSPLASIA 1
OMIM606014.0002 Diseasep.ASN203SERFRONTONASAL DYSPLASIA 1
OMIM606014.0003 Diseasep.LEU168VALFRONTONASAL DYSPLASIA 1
OMIM606014.0005 Diseasep.TYR181TERFRONTONASAL DYSPLASIA 1



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