Results for the protein: Q9UM01

Results for the Protein: Q9UM01

12643378

9056

SLC7A7

NCBI, UniProt

YLAT1_HUMAN RecName: Full=Y+L amino acid transporter 1; AltName: Full=Monocyte amino acid permease 2; Short=MOP-2; AltName: Full=Solute carrier family 7 member 7; AltName: Full=y(+)L-type amino acid transporter 1; Short=Y+LAT1; Short=y+LAT-1

Known Diseases associated with this Protein:
LYSINURIC PROTEIN INTOLERANCE
LYSINURIC PROTEIN INTOLERANCE (LPI)

22

5

4

2

21

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Default View:	Swiss-Prot Protein: Q9UM01 Identical to: NP_001119578, NP_001119577 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_039097	Disease	p.ALA140PRO	Lysinuric protein intolerance (LPI)
Swiss-Prot	VAR_039095	Polymorphism	p.ALA91VAL	N/A
Swiss-Prot	VAR_039099	Polymorphism	p.ARG159CYS	N/A
Swiss-Prot	VAR_030598	Disease	p.ARG333MET	Lysinuric protein intolerance (LPI)
dbSNP	rs1061040	Polymorphism	p.ASN509LYS	N/A
Swiss-Prot	VAR_039103	Disease	p.ASN365TYR	Lysinuric protein intolerance (LPI)
dbSNP	rs8018462	Polymorphism	p.GLN166HIS	N/A
Swiss-Prot	VAR_039101	Disease	p.GLU251ASP	Lysinuric protein intolerance (LPI)
Swiss-Prot	VAR_010999	Disease	p.GLY338ASP	Lysinuric protein intolerance (LPI)
Swiss-Prot	VAR_010261	Disease	p.GLY54VAL	Lysinuric protein intolerance (LPI)
Swiss-Prot	VAR_010262	Disease	p.LEU334ARG	Lysinuric protein intolerance (LPI)
Swiss-Prot	VAR_039096	Disease	p.LEU124PRO	Lysinuric protein intolerance (LPI)
Swiss-Prot	VAR_039102	Disease	p.LEU261PRO	Lysinuric protein intolerance (LPI)
Swiss-Prot	VAR_039100	Disease	p.LYS191GLU	Lysinuric protein intolerance (LPI)
Swiss-Prot	VAR_030595	Disease	p.MET50LYS	Lysinuric protein intolerance (LPI)
Swiss-Prot	VAR_039098	Disease	p.PHE152LEU	Lysinuric protein intolerance (LPI)
Swiss-Prot	VAR_036609	Polymorphism	p.PRO413SER	N/A
Swiss-Prot	VAR_011000	Disease	p.SER386ARG	Lysinuric protein intolerance (LPI)
Swiss-Prot	VAR_039094	Disease	p.SER53LEU	Lysinuric protein intolerance (LPI)
Swiss-Prot	VAR_030597	Disease	p.SER238PHE	Lysinuric protein intolerance (LPI)
Swiss-Prot	VAR_030599	Disease	p.SER489PRO	Lysinuric protein intolerance (LPI)
Swiss-Prot	VAR_030596	Disease	p.THR188ILE	Lysinuric protein intolerance (LPI)
Swiss-Prot	VAR_039092	Disease	p.THR5ILE	Lysinuric protein intolerance (LPI)
OMIM	603593.0008	Disease	p.ARG410TER	LYSINURIC PROTEIN INTOLERANCE
OMIM	603593.0007	Disease	p.GLY54VAL	LYSINURIC PROTEIN INTOLERANCE
OMIM	603593.0005	Disease	p.LEU334ARG	LYSINURIC PROTEIN INTOLERANCE
OMIM	603593.0010	Disease	p.TRP242TER	LYSINURIC PROTEIN INTOLERANCE

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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