Home News About DMDM Database Statistics Research Publications Contact  

Results for the Protein: P22681
251757253
867
CBL

CBL_HUMAN RecName: Full=E3 ubiquitin-protein ligase CBL; AltName: Full=Casitas B-lineage lymphoma proto-oncogene; AltName: Full=Proto-oncogene c-Cbl; AltName: Full=RING finger protein 55; AltName: Full=Signal transduction protein CBL

Known Diseases associated with this Protein:
  NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA
  NOONAN SYNDROME-LIKE DISORDER WITH OR WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA (NSLL)
  NOONAN SYNDROME-LIKE DISORDER WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA
12
3
8
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:

Cbl_N - pfam02262
Cbl_N2 - pfam02761
Cbl_N3 - pfam02762
RING - cd00162
RING - smart00184
zf-C3HC4 - pfam00097
UBA - pfam00627
UBA - smart00165
UBA - cd00194


Swiss-Prot Protein: P22681
Identical to: NP_005179
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
RINGcd001629.5e-11380423
UBAcd001945.6e-08857894
Cbl_Npfam022621.4e-10547176
Cbl_N2pfam027618e-69178262
Cbl_N3pfam027622.4e-65264349
zf-C3HC4pfam000975e-12381419
UBApfam006271.6e-06856892
RINGsmart001841.9e-12381419
UBAsmart001651.4e-08857893

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_064335Diseasep.ARG420GLNNoonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL)
Swiss-ProtVAR_064334Diseasep.ASP390TYRNoonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL)
Swiss-ProtVAR_064332Diseasep.GLN367PRONoonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL)
dbSNPrs2227988 Polymorphismp.LEU620PHEN/A
Swiss-ProtVAR_064333Diseasep.LYS382GLUNoonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL)
Swiss-ProtVAR_057212Polymorphismp.PRO782LEUN/A
Swiss-ProtVAR_057213Polymorphismp.VAL904ILEN/A
OMIM165360.0004 Diseasep.ARG420GLNNOONAN SYNDROME-LIKE DISORDER WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA
OMIM165360.0003 Diseasep.ASP390TYRNOONAN SYNDROME-LIKE DISORDER WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA
OMIM165360.0007 Diseasep.CYS384ARGNOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA
OMIM165360.0008 Diseasep.CYS396ARGNOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA
OMIM165360.0001 Diseasep.GLN367PRONOONAN SYNDROME-LIKE DISORDER WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA
OMIM165360.0002 Diseasep.LYS382GLUNOONAN SYNDROME-LIKE DISORDER WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA
OMIM165360.0009 Diseasep.TYR371CYSNOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA
OMIM165360.0005 Diseasep.TYR371HISNOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA



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