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Results for the Protein: Q9UM01
12643378

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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Swiss-Prot Protein: Q9UM01
Identical to: NP_001119578, NP_001119577
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
NO_DOMAIN_FOUND00

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_039097Diseasep.ALA140PROLysinuric protein intolerance (LPI)
Swiss-ProtVAR_039095Polymorphismp.ALA91VALN/A
Swiss-ProtVAR_039099Polymorphismp.ARG159CYSN/A
Swiss-ProtVAR_030598Diseasep.ARG333METLysinuric protein intolerance (LPI)
dbSNPrs1061040 Polymorphismp.ASN509LYSN/A
Swiss-ProtVAR_039103Diseasep.ASN365TYRLysinuric protein intolerance (LPI)
dbSNPrs8018462 Polymorphismp.GLN166HISN/A
Swiss-ProtVAR_039101Diseasep.GLU251ASPLysinuric protein intolerance (LPI)
Swiss-ProtVAR_010999Diseasep.GLY338ASPLysinuric protein intolerance (LPI)
Swiss-ProtVAR_010261Diseasep.GLY54VALLysinuric protein intolerance (LPI)
Swiss-ProtVAR_010262Diseasep.LEU334ARGLysinuric protein intolerance (LPI)
Swiss-ProtVAR_039096Diseasep.LEU124PROLysinuric protein intolerance (LPI)
Swiss-ProtVAR_039102Diseasep.LEU261PROLysinuric protein intolerance (LPI)
Swiss-ProtVAR_039100Diseasep.LYS191GLULysinuric protein intolerance (LPI)
Swiss-ProtVAR_030595Diseasep.MET50LYSLysinuric protein intolerance (LPI)
Swiss-ProtVAR_039098Diseasep.PHE152LEULysinuric protein intolerance (LPI)
Swiss-ProtVAR_036609Polymorphismp.PRO413SERN/A
Swiss-ProtVAR_011000Diseasep.SER386ARGLysinuric protein intolerance (LPI)
Swiss-ProtVAR_039094Diseasep.SER53LEULysinuric protein intolerance (LPI)
Swiss-ProtVAR_030597Diseasep.SER238PHELysinuric protein intolerance (LPI)
Swiss-ProtVAR_030599Diseasep.SER489PROLysinuric protein intolerance (LPI)
Swiss-ProtVAR_030596Diseasep.THR188ILELysinuric protein intolerance (LPI)
Swiss-ProtVAR_039092Diseasep.THR5ILELysinuric protein intolerance (LPI)
OMIM603593.0008 Diseasep.ARG410TERLYSINURIC PROTEIN INTOLERANCE
OMIM603593.0007 Diseasep.GLY54VALLYSINURIC PROTEIN INTOLERANCE
OMIM603593.0005 Diseasep.LEU334ARGLYSINURIC PROTEIN INTOLERANCE
OMIM603593.0010 Diseasep.TRP242TERLYSINURIC PROTEIN INTOLERANCE



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