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Results for the Protein: P53985
313104214

MOT1_HUMAN RecName: Full=Monocarboxylate transporter 1; Short=MCT 1; AltName: Full=Solute carrier family 16 member 1

Known Diseases associated with this Protein:
  ERYTHROCYTE LACTATE TRANSPORTER DEFECT
  SYMPTOMATIC DEFICIENCY IN LACTATE TRANSPORT (SDLT)
4
2
2
1
3
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Default View:

MFS - cd06174
MFS_1 - pfam07690


Swiss-Prot Protein: P53985
Identical to: NP_001159968, NP_003042
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
MFScd061741.5e-5320441
MFS_1pfam076902.5e-3126406

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs1049434 Polymorphismp.ASP490GLUN/A
Swiss-ProtVAR_010435Diseasep.GLY472ARGSymptomatic deficiency in lactate transport (SDLT)
Swiss-ProtVAR_010434Diseasep.LYS204GLUSymptomatic deficiency in lactate transport (SDLT)
Swiss-ProtVAR_054804Polymorphismp.SER85GLYN/A
OMIM600682.0002 Diseasep.GLY472ARGERYTHROCYTE LACTATE TRANSPORTER DEFECT
OMIM600682.0001 Diseasep.LYS204GLUERYTHROCYTE LACTATE TRANSPORTER DEFECT



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