Results for the protein: Q9BZD2

Results for the Protein: Q9BZD2

313104188

55315

SLC29A3

NCBI, UniProt

S29A3_HUMAN RecName: Full=Equilibrative nucleoside transporter 3; Short=hENT3; AltName: Full=Solute carrier family 29 member 3

Known Diseases associated with this Protein:
HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME
HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME (HLAS)

18

9

10

7

10

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: Nucleoside_tran - pfam01733	Swiss-Prot Protein: Q9BZD2 Identical to: NP_060814 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_067802	Disease	p.ARG134CYS	Histiocytosis-lymphadenopathy plus syndrome (HLAS)
Swiss-Prot	VAR_067806	Disease	p.ARG363GLN	Histiocytosis-lymphadenopathy plus syndrome (HLAS)
dbSNP	rs2277257	Polymorphism	p.ARG18GLY	N/A
Swiss-Prot	VAR_067807	Disease	p.ARG363TRP	Histiocytosis-lymphadenopathy plus syndrome (HLAS)
Swiss-Prot	VAR_057885	Disease	p.GLY437ARG	Histiocytosis-lymphadenopathy plus syndrome (HLAS)
Swiss-Prot	VAR_057884	Disease	p.GLY427SER	Histiocytosis-lymphadenopathy plus syndrome (HLAS)
Swiss-Prot	VAR_067803	Polymorphism	p.GLY163VAL	N/A
dbSNP	rs2487068	Polymorphism	p.ILE326VAL	N/A
dbSNP	rs79737301	Polymorphism	p.LEU281PRO	N/A
Swiss-Prot	VAR_067801	Disease	p.MET116ARG	Histiocytosis-lymphadenopathy plus syndrome (HLAS)
Swiss-Prot	VAR_067804	Disease	p.SER184ARG	Histiocytosis-lymphadenopathy plus syndrome (HLAS)
dbSNP	rs780668	Polymorphism	p.SER158PHE	N/A
Swiss-Prot	VAR_067809	Disease	p.THR449ARG	Histiocytosis-lymphadenopathy plus syndrome (HLAS)
dbSNP	rs77339410	Polymorphism	p.TYR102HIS	N/A
dbSNP	rs999940	Polymorphism	p.VAL452GLU	N/A
dbSNP	rs2252996	Polymorphism	p.VAL239ILE	N/A
Swiss-Prot	VAR_067808	Polymorphism	p.VAL407MET	N/A
OMIM	612373.0010	Disease	p.ARG363GLN	HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME
OMIM	612373.0013	Disease	p.ARG386GLN	HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME
OMIM	612373.0011	Disease	p.ARG363TRP	HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME
OMIM	612373.0004	Disease	p.GLU444TER	HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME
OMIM	612373.0002	Disease	p.GLY437ARG	HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME
OMIM	612373.0001	Disease	p.GLY427SER	HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME
OMIM	612373.0006	Disease	p.MET116ARG	HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME
OMIM	612373.0009	Disease	p.PHE103TER	HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME
OMIM	612373.0014	Disease	p.SER203PRO	HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME
OMIM	612373.0007	Disease	p.THR449ARG	HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME

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