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Results for the Protein: Q9UMX9
145572854

S45A2_HUMAN RecName: Full=Membrane-associated transporter protein; AltName: Full=Melanoma antigen AIM1; Short=Protein AIM-1; AltName: Full=Solute carrier family 45 member 2

Known Diseases associated with this Protein:
  ALBINISM, OCULOCUTANEOUS, 4 (OCA4)
13
4
0
0
17
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MFS - cd06174


Swiss-Prot Protein: Q9UMX9
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
MFScd061740.0004935526

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_022719Diseasep.ALA477THRAlbinism, oculocutaneous, 4 (OCA4)
Swiss-ProtVAR_022720Diseasep.ALA486VALAlbinism, oculocutaneous, 4 (OCA4)
Swiss-ProtVAR_067074Diseasep.ARG348CYSAlbinism, oculocutaneous, 4 (OCA4)
Swiss-ProtVAR_022712Diseasep.ASP157ASNAlbinism, oculocutaneous, 4 (OCA4)
Swiss-ProtVAR_022716Polymorphismp.GLU272LYSN/A
Swiss-ProtVAR_067072Diseasep.GLY64SERAlbinism, oculocutaneous, 4 (OCA4)
Swiss-ProtVAR_022713Diseasep.GLY188VALAlbinism, oculocutaneous, 4 (OCA4)
Swiss-ProtVAR_012162Polymorphismp.LEU374PHEN/A
Swiss-ProtVAR_022718Diseasep.LEU361PROAlbinism, oculocutaneous, 4 (OCA4)
Swiss-ProtVAR_067071Diseasep.MET42ILEAlbinism, oculocutaneous, 4 (OCA4)
Swiss-ProtVAR_022710Diseasep.PRO58ALAAlbinism, oculocutaneous, 4 (OCA4)
Swiss-ProtVAR_022711Diseasep.PRO58SERAlbinism, oculocutaneous, 4 (OCA4)
Swiss-ProtVAR_022721Polymorphismp.THR500PRON/A
Swiss-ProtVAR_067073Diseasep.THR302SERAlbinism, oculocutaneous, 4 (OCA4)
Swiss-ProtVAR_022714Diseasep.TRP202CYSAlbinism, oculocutaneous, 4 (OCA4)
Swiss-ProtVAR_022717Diseasep.TYR317CYSAlbinism, oculocutaneous, 4 (OCA4)
Swiss-ProtVAR_022722Polymorphismp.VAL507LEUN/A



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