Results for the protein: P82251

Results for the Protein: P82251

12585187

11136

SLC7A9

NCBI, UniProt

BAT1_HUMAN RecName: Full=B(0,+)-type amino acid transporter 1; Short=B(0,+)AT; AltName: Full=Glycoprotein-associated amino acid transporter b0,+AT1; AltName: Full=Solute carrier family 7 member 9

Known Diseases associated with this Protein:
CYSTINURIA
CYSTINURIA (CSNU)

33

2

10

2

23

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Default View: LysP - COG0833 AnsP - COG1113 PotE - COG0531 AA_permease - pfam00324	Swiss-Prot Protein: P82251 Identical to: NP_055085, NP_001229965, NP_001119807 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
AnsP	COG1113	1.1e-05	16	472
PotE	COG0531	8.1e-66	17	485
AA_permease	pfam00324	2.4e-07	34	470

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_019003	Disease	p.ALA126THR	Cystinuria (CSNU)
Swiss-Prot	VAR_010258	Disease	p.ALA182THR	Cystinuria (CSNU)
Swiss-Prot	VAR_014365	Disease	p.ALA354THR	Cystinuria (CSNU)
Swiss-Prot	VAR_019013	Disease	p.ALA382THR	Cystinuria (CSNU)
Swiss-Prot	VAR_022603	Disease	p.ALA224VAL	Cystinuria (CSNU)
Swiss-Prot	VAR_022604	Disease	p.ALA331VAL	Cystinuria (CSNU)
Swiss-Prot	VAR_019001	Disease	p.ALA70VAL	Cystinuria (CSNU)
Swiss-Prot	VAR_019011	Disease	p.ARG333TRP	Cystinuria (CSNU)
Swiss-Prot	VAR_010256	Disease	p.GLY105ARG	Cystinuria (CSNU)
Swiss-Prot	VAR_010259	Disease	p.GLY195ARG	Cystinuria (CSNU)
Swiss-Prot	VAR_010260	Disease	p.GLY259ARG	Cystinuria (CSNU)
Swiss-Prot	VAR_018999	Disease	p.GLY63ARG	Cystinuria (CSNU)
Swiss-Prot	VAR_019005	Disease	p.ILE187PHE	Cystinuria (CSNU)
Swiss-Prot	VAR_019009	Disease	p.ILE241THR	Cystinuria (CSNU)
Swiss-Prot	VAR_014363	Disease	p.ILE44THR	Cystinuria (CSNU)
dbSNP	rs1007160	Polymorphism	p.LEU223MET	N/A
Swiss-Prot	VAR_014364	Disease	p.PRO261LEU	Cystinuria (CSNU)
Swiss-Prot	VAR_018998	Disease	p.PRO52LEU	Cystinuria (CSNU)
Swiss-Prot	VAR_019012	Disease	p.SER379ARG	Cystinuria (CSNU)
Swiss-Prot	VAR_019002	Disease	p.THR123MET	Cystinuria (CSNU)
Swiss-Prot	VAR_019008	Disease	p.TRP230ARG	Cystinuria (CSNU)
Swiss-Prot	VAR_019000	Disease	p.TRP69LEU	Cystinuria (CSNU)
dbSNP	rs12150889	Polymorphism	p.VAL142ALA	N/A
Swiss-Prot	VAR_010257	Disease	p.VAL170MET	Cystinuria (CSNU)
Swiss-Prot	VAR_015885	Disease	p.VAL330MET	Cystinuria (CSNU)
OMIM	604144.0003	Disease	p.ALA182THR	CYSTINURIA
OMIM	604144.0008	Disease	p.ARG333TRP	CYSTINURIA
OMIM	604144.0002	Disease	p.GLY105ARG	CYSTINURIA
OMIM	604144.0004	Disease	p.GLY195ARG	CYSTINURIA
OMIM	604144.0005	Disease	p.GLY259ARG	CYSTINURIA
OMIM	604144.0009	Disease	p.ILE44THR	CYSTINURIA
OMIM	604144.0010	Disease	p.PRO261LEU	CYSTINURIA
OMIM	604144.0014	Disease	p.THR123MET	CYSTINURIA
OMIM	604144.0012	Disease	p.TYR232CYS	CYSTINURIA
OMIM	604144.0001	Disease	p.VAL170MET	CYSTINURIA

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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