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Results for the Protein: P36021
114152841

MOT8_HUMAN RecName: Full=Monocarboxylate transporter 8; Short=MCT 8; AltName: Full=Monocarboxylate transporter 7; Short=MCT 7; AltName: Full=Solute carrier family 16 member 2; AltName: Full=X-linked PEST-containing transporter

Known Diseases associated with this Protein:
  MONOCARBOXYLATE TRANSPORTER 8 DEFICIENCY (MCT8 DEFICIENCY)
8
1
0
0
9
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Default View:

MFS_1 - pfam07690


Swiss-Prot Protein: P36021
   Default View:



Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
MFS_1pfam076903.4e-24104463

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_022348Diseasep.ALA150VALMonocarboxylate transporter 8 deficiency (MCT8 deficiency)
Swiss-ProtVAR_059059Diseasep.GLY490ARGMonocarboxylate transporter 8 deficiency (MCT8 deficiency)
Swiss-ProtVAR_057723Polymorphismp.ILE323LEUN/A
Swiss-ProtVAR_022349Diseasep.LEU397PROMonocarboxylate transporter 8 deficiency (MCT8 deficiency)
Swiss-ProtVAR_022350Diseasep.LEU438PROMonocarboxylate transporter 8 deficiency (MCT8 deficiency)
Swiss-ProtVAR_059060Diseasep.LEU494PROMonocarboxylate transporter 8 deficiency (MCT8 deficiency)
Swiss-ProtVAR_059057Diseasep.LEU360TRPMonocarboxylate transporter 8 deficiency (MCT8 deficiency)
Swiss-ProtVAR_059054Diseasep.SER120PHEMonocarboxylate transporter 8 deficiency (MCT8 deficiency)
Swiss-ProtVAR_059056Diseasep.VAL161METMonocarboxylate transporter 8 deficiency (MCT8 deficiency)



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