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Results for the Protein: P23975
128616

SC6A2_HUMAN RecName: Full=Sodium-dependent noradrenaline transporter; AltName: Full=Norepinephrine transporter; Short=NET; AltName: Full=Solute carrier family 6 member 2

Known Diseases associated with this Protein:
  ORTHOSTATIC INTOLERANCE
  ORTHOSTATIC INTOLERANCE (OI)
2
16
1
4
13
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Default View:

COG0733 - COG0733
SNF - pfam00209


Swiss-Prot Protein: P23975
Identical to: NP_001165972, NP_001034
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
COG0733COG07332.5e-6052543
SNFpfam0020956580

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_011761Polymorphismp.ALA369PRON/A
Swiss-ProtVAR_010022Diseasep.ALA457PROOrthostatic intolerance (OI)
Swiss-ProtVAR_029157Polymorphismp.ASN7LYSN/A
Swiss-ProtVAR_011762Polymorphismp.ASN375SERN/A
Swiss-ProtVAR_011759Polymorphismp.ASN292THRN/A
Swiss-ProtVAR_011764Polymorphismp.GLY478SERN/A
dbSNPrs3743788 Polymorphismp.ILE549THRN/A
Swiss-ProtVAR_011763Polymorphismp.LYS463ARGN/A
dbSNPrs5558 Polymorphismp.PHE528CYSN/A
Swiss-ProtVAR_020048Polymorphismp.THR283ARGN/A
Swiss-ProtVAR_011757Polymorphismp.THR99ILEN/A
Swiss-ProtVAR_011766Polymorphismp.TYR548HISN/A
dbSNPrs1805066 Polymorphismp.VAL245ILEN/A
dbSNPrs11568341 Polymorphismp.VAL247ILEN/A
Swiss-ProtVAR_014800Polymorphismp.VAL449ILEN/A
Swiss-ProtVAR_011756Polymorphismp.VAL69ILEN/A
Swiss-ProtVAR_011760Polymorphismp.VAL356LEUN/A
OMIM163970.0001 Diseasep.ALA457PROORTHOSTATIC INTOLERANCE



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