Results for the protein: O15245

Results for the Protein: O15245

313104181

6580

SLC22A1

NCBI, UniProt

S22A1_HUMAN RecName: Full=Solute carrier family 22 member 1; AltName: Full=Organic cation transporter 1; Short=hOCT1

			0 20 0 7 13

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Default View: ProP - COG0477 Sugar_tr - pfam00083 AraJ - COG2814 MFS - cd06174 MFS_1 - pfam07690	Swiss-Prot Protein: O15245 Identical to: NP_003048 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
MFS	cd06174	4.2e-54	113	514
Sugar_tr	pfam00083	4.4e-09	106	528
AraJ	COG2814	0.00045	112	522
MFS_1	pfam07690	2.5e-12	116	481

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs12208357	Polymorphism	p.ARG61CYS	N/A
Swiss-Prot	VAR_043328	Polymorphism	p.ARG287GLY	N/A
dbSNP	rs34205214	Polymorphism	p.ARG342HIS	N/A
Swiss-Prot	VAR_043337	Polymorphism	p.ARG488MET	N/A
dbSNP	rs35270274	Polymorphism	p.ARG488THR	N/A
Swiss-Prot	VAR_043323	Polymorphism	p.CYS88ARG	N/A
Swiss-Prot	VAR_043336	Polymorphism	p.GLY465ARG	N/A
Swiss-Prot	VAR_043331	Polymorphism	p.GLY401SER	N/A
Swiss-Prot	VAR_043326	Polymorphism	p.GLY220VAL	N/A
dbSNP	rs683369	Polymorphism	p.LEU160PHE	N/A
Swiss-Prot	VAR_043322	Polymorphism	p.LEU85PHE	N/A
Swiss-Prot	VAR_043334	Polymorphism	p.MET440ILE	N/A
dbSNP	rs628031	Polymorphism	p.MET408VAL	N/A
Swiss-Prot	VAR_043320	Polymorphism	p.PHE41LEU	N/A
Swiss-Prot	VAR_043327	Polymorphism	p.PRO283LEU	N/A
dbSNP	rs2282143	Polymorphism	p.PRO341LEU	N/A
Swiss-Prot	VAR_043325	Polymorphism	p.SER189LEU	N/A
Swiss-Prot	VAR_043319	Polymorphism	p.SER14PHE	N/A
Swiss-Prot	VAR_043335	Polymorphism	p.VAL461ILE	N/A
dbSNP	rs78899680	Polymorphism	p.VAL519ILE	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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