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Results for the Protein: P43003
1169458

EAA1_HUMAN RecName: Full=Excitatory amino acid transporter 1; AltName: Full=Sodium-dependent glutamate/aspartate transporter 1; Short=GLAST-1; AltName: Full=Solute carrier family 1 member 3

Known Diseases associated with this Protein:
  EPISODIC ATAXIA 6 (EA6)
  EPISODIC ATAXIA, TYPE 6
3
1
2
1
1
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Default View:

GltP - COG1301
COG1823 - COG1823
SDF - pfam00375
SstT - COG3633


Swiss-Prot Protein: P43003
Identical to: NP_004163
   Default View:






Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
GltPCOG13017.9e-10236522
COG1823COG18234.2e-0846516
SDFpfam003752.2e-15950497
SstTCOG36334.2e-0772504

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs2032892 Polymorphismp.GLU219ASPN/A
Swiss-ProtVAR_031733Diseasep.PRO290ARGEpisodic ataxia 6 (EA6)
OMIM600111.0002 Diseasep.CYS186SEREPISODIC ATAXIA, TYPE 6
OMIM600111.0001 Diseasep.PRO290ARGEPISODIC ATAXIA, TYPE 6



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