Home News About DMDM Database Statistics Research Publications Contact  

Results for the Protein: Q06330
338817983

SUH_HUMAN RecName: Full=Recombining binding protein suppressor of hairless; AltName: Full=CBF-1; AltName: Full=J kappa-recombination signal-binding protein; AltName: Full=RBP-J kappa; Short=RBP-J; Short=RBP-JK; AltName: Full=Renal carcinoma antigen NY-REN-30

Known Diseases associated with this Protein:
  ADAMS-OLIVER SYNDROME 3
  ADAMS-OLIVER SYNDROME 3 (AOS3)
4
8
2
1
9
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:

LAG1-DNAbind - pfam09271
BTD - pfam09270
IPT_RBP-Jkappa - cd01176
IPT_TF - cd00602
IPT - cd00102
TIG - pfam01833


Swiss-Prot Protein: Q06330
Identical to: NP_005340
   Default View:






Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
IPT_RBP-Jkappacd011761.3e-79350446
IPT_TFcd006021.4e-41352446
IPTcd001021.7e-09355446
TIGpfam018331.1e-05355444
LAG1-DNAbindpfam092711.7e-7947178
BTDpfam092705.3e-103179328

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_028998Polymorphismp.ALA456VALN/A
Swiss-ProtVAR_028996Polymorphismp.ARG419GLNN/A
Swiss-ProtVAR_028995Polymorphismp.ASP334HISN/A
Swiss-ProtVAR_068929Diseasep.GLU63GLYAdams-Oliver syndrome 3 (AOS3)
Swiss-ProtVAR_057244Polymorphismp.ILE408VALN/A
Swiss-ProtVAR_068930Diseasep.LYS169GLUAdams-Oliver syndrome 3 (AOS3)
Swiss-ProtVAR_028994Polymorphismp.LYS291GLUN/A
Swiss-ProtVAR_057243Polymorphismp.MET296LYSN/A
Swiss-ProtVAR_028997Polymorphismp.PRO425SERN/A
dbSNPrs75014045 Polymorphismp.THR197ARGN/A
OMIM147183.0001 Diseasep.GLU63GLYADAMS-OLIVER SYNDROME 3
OMIM147183.0002 Diseasep.LYS169GLUADAMS-OLIVER SYNDROME 3



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