Results for the protein: O43868

Results for the Protein: O43868

116242780

9153

SLC28A2

NCBI, UniProt

S28A2_HUMAN RecName: Full=Sodium/nucleoside cotransporter 2; AltName: Full=Concentrative nucleoside transporter 2; Short=CNT 2; Short=hCNT2; AltName: Full=Na(+)/nucleoside cotransporter 2; AltName: Full=Sodium-coupled nucleoside transporter 2; AltName: Full=Sodium/purine nucleoside co-transporter; Short=SPNT; AltName: Full=Solute carrier family 28 member 2

			0 13 0 7 6

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Default View: NupC - COG1972 Nucleos_tra2_N - pfam01773 Gate - pfam07670 Nucleos_tra2_C - pfam07662	Swiss-Prot Protein: O43868 Identical to: NP_004203 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Nucleos_tra2_N	pfam01773	4.9e-31	178	252
Gate	pfam07670	1.6e-21	258	359
Nucleos_tra2_C	pfam07662	2.2e-103	361	586

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_036818	Polymorphism	p.ARG142HIS	N/A
Swiss-Prot	VAR_036819	Polymorphism	p.GLU172ASP	N/A
Swiss-Prot	VAR_036820	Polymorphism	p.GLU385LYS	N/A
Swiss-Prot	VAR_028724	Polymorphism	p.GLY509GLU	N/A
dbSNP	rs59889218	Polymorphism	p.HIS73GLN	N/A
dbSNP	rs17222057	Polymorphism	p.LEU462PHE	N/A
Swiss-Prot	VAR_036817	Polymorphism	p.LEU12PRO	N/A
dbSNP	rs2271437	Polymorphism	p.LEU163TRP	N/A
Swiss-Prot	VAR_036821	Polymorphism	p.MET612THR	N/A
dbSNP	rs17215633	Polymorphism	p.PHE355SER	N/A
dbSNP	rs61637002	Polymorphism	p.PRO22LEU	N/A
dbSNP	rs1060896	Polymorphism	p.SER75ARG	N/A
dbSNP	rs10519020	Polymorphism	p.SER245THR	N/A

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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