Results for the protein: O00337

Results for the Protein: O00337

229462744

9154

SLC28A1

NCBI, UniProt

S28A1_HUMAN RecName: Full=Sodium/nucleoside cotransporter 1; AltName: Full=Concentrative nucleoside transporter 1; Short=CNT 1; Short=hCNT1; AltName: Full=Na(+)/nucleoside cotransporter 1; AltName: Full=Sodium-coupled nucleoside transporter 1; AltName: Full=Solute carrier family 28 member 1

			0 8 0 4 4

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Default View: NupC - COG1972 Nucleos_tra2_N - pfam01773 Gate - pfam07670 Nucleos_tra2_C - pfam07662	Swiss-Prot Protein: O00337 Identical to: NP_004204 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Nucleos_tra2_N	pfam01773	2e-27	183	257
Gate	pfam07670	3.9e-23	263	364
Nucleos_tra2_C	pfam07662	4.5e-109	366	591

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_057194	Polymorphism	p.ALA190SER	N/A
dbSNP	rs2242047	Polymorphism	p.ARG510CYS	N/A
Swiss-Prot	VAR_009502	Polymorphism	p.ASN409SER	N/A
dbSNP	rs2242046	Polymorphism	p.ASP521ASN	N/A
dbSNP	rs8187758	Polymorphism	p.GLN237LYS	N/A
Swiss-Prot	VAR_009499	Polymorphism	p.GLU34GLY	N/A
Swiss-Prot	VAR_061802	Polymorphism	p.SER546PRO	N/A
dbSNP	rs2290272	Polymorphism	p.VAL189ILE	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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