Results for the protein: P22681

Results for the Protein: P22681

251757253

867

CBL

NCBI, UniProt

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 ↕
UBA	cd00194	5.6e-08	857	894
Cbl_N	pfam02262	1.4e-105	47	176
Cbl_N2	pfam02761	8e-69	178	262
Cbl_N3	pfam02762	2.4e-65	264	349
zf-C3HC4	pfam00097	5e-12	381	419
UBA	pfam00627	1.6e-06	856	892
RING	smart00184	1.9e-12	381	419
UBA	smart00165	1.4e-08	857	893

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_064335	Disease	p.ARG420GLN	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL)
Swiss-Prot	VAR_064334	Disease	p.ASP390TYR	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL)
Swiss-Prot	VAR_064332	Disease	p.GLN367PRO	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL)
dbSNP	rs2227988	Polymorphism	p.LEU620PHE	N/A
Swiss-Prot	VAR_064333	Disease	p.LYS382GLU	Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL)
Swiss-Prot	VAR_057212	Polymorphism	p.PRO782LEU	N/A
Swiss-Prot	VAR_057213	Polymorphism	p.VAL904ILE	N/A
OMIM	165360.0004	Disease	p.ARG420GLN	NOONAN SYNDROME-LIKE DISORDER WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA
OMIM	165360.0003	Disease	p.ASP390TYR	NOONAN SYNDROME-LIKE DISORDER WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA
OMIM	165360.0007	Disease	p.CYS384ARG	NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA
OMIM	165360.0008	Disease	p.CYS396ARG	NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA
OMIM	165360.0001	Disease	p.GLN367PRO	NOONAN SYNDROME-LIKE DISORDER WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA
OMIM	165360.0002	Disease	p.LYS382GLU	NOONAN SYNDROME-LIKE DISORDER WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA
OMIM	165360.0009	Disease	p.TYR371CYS	NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA
OMIM	165360.0005	Disease	p.TYR371HIS	NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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