Results for the protein: Q9BXC9

Results for the Protein: Q9BXC9

20454827

583

BBS2

NCBI, UniProt

BBS2_HUMAN RecName: Full=Bardet-Biedl syndrome 2 protein

Known Diseases associated with this Protein:
BARDET-BIEDL SYNDROME 2
BARDET-BIEDL SYNDROME 2 (BBS2)

27

4

11

2

18

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:	Swiss-Prot Protein: Q9BXC9 Identical to: NP_114091 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_066282	Disease	p.ALA136PRO	Bardet-Biedl syndrome 2 (BBS2)
Swiss-Prot	VAR_029747	Polymorphism	p.ALA122VAL	N/A
dbSNP	rs16957538	Polymorphism	p.ALA504VAL	N/A
Swiss-Prot	VAR_013166	Disease	p.ARG315GLN	Bardet-Biedl syndrome 2 (BBS2)
Swiss-Prot	VAR_038892	Disease	p.ARG643HIS	Bardet-Biedl syndrome 2 (BBS2)
Swiss-Prot	VAR_038889	Disease	p.ARG23PRO	Bardet-Biedl syndrome 2 (BBS2)
Swiss-Prot	VAR_013169	Disease	p.ARG632PRO	Bardet-Biedl syndrome 2 (BBS2)
Swiss-Prot	VAR_013167	Disease	p.ARG315TRP	Bardet-Biedl syndrome 2 (BBS2)
Swiss-Prot	VAR_013162	Disease	p.ASN70SER	Bardet-Biedl syndrome 2 (BBS2)
Swiss-Prot	VAR_013164	Disease	p.ASP104ALA	Bardet-Biedl syndrome 2 (BBS2)
Swiss-Prot	VAR_038890	Disease	p.ASP174GLU	Bardet-Biedl syndrome 2 (BBS2)
Swiss-Prot	VAR_066283	Disease	p.CYS307TRP	Bardet-Biedl syndrome 2 (BBS2)
Swiss-Prot	VAR_066285	Polymorphism	p.GLU629LYS	N/A
Swiss-Prot	VAR_066280	Disease	p.GLY81CYS	Bardet-Biedl syndrome 2 (BBS2)
dbSNP	rs11373	Polymorphism	p.ILE123VAL	N/A
Swiss-Prot	VAR_066281	Disease	p.LEU125ARG	Bardet-Biedl syndrome 2 (BBS2)
Swiss-Prot	VAR_038891	Disease	p.LEU349TRP	Bardet-Biedl syndrome 2 (BBS2)
Swiss-Prot	VAR_013168	Disease	p.THR558ILE	Bardet-Biedl syndrome 2 (BBS2)
Swiss-Prot	VAR_066284	Disease	p.TYR317CYS	Bardet-Biedl syndrome 2 (BBS2)
Swiss-Prot	VAR_013163	Disease	p.VAL75GLY	Bardet-Biedl syndrome 2 (BBS2)
OMIM	606151.0010	Disease	p.ARG634PRO	BARDET-BIEDL SYNDROME 2
OMIM	606151.0016	Disease	p.ARG216TER	BARDET-BIEDL SYNDROME 2
OMIM	606151.0005	Disease	p.ARG275TER	BARDET-BIEDL SYNDROME 2
OMIM	606151.0006	Disease	p.ARG315TRP	BARDET-BIEDL SYNDROME 2
OMIM	606151.0013	Disease	p.ASN70SER	BARDET-BIEDL SYNDROME 2
OMIM	606151.0009	Disease	p.ASP104ALA	BARDET-BIEDL SYNDROME 2
OMIM	606151.0004	Disease	p.GLN59TER	BARDET-BIEDL SYNDROME 2
OMIM	606151.0017	Disease	p.GLY139VAL	BARDET-BIEDL SYNDROME 2
OMIM	606151.0015	Disease	p.THR560ILE	BARDET-BIEDL SYNDROME 2
OMIM	606151.0003	Disease	p.TYR24TER	BARDET-BIEDL SYNDROME 2
OMIM	606151.0002	Disease	p.VAL75GLY	BARDET-BIEDL SYNDROME 2

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.

DMDM_info@umbc.edu | 1000 Hilltop Circle, Baltimore, MD 21250 | Department of Biological Sciences | Phone: 410-455-2258