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Results for the Protein: Q495M3
121943282

S36A2_HUMAN RecName: Full=Proton-coupled amino acid transporter 2; Short=Proton/amino acid transporter 2; AltName: Full=Solute carrier family 36 member 2; AltName: Full=Tramdorin-1

Known Diseases associated with this Protein:
  HYPERGLYCINURIA, INCLUDED
  IMINOGLYCINURIA (IG)
  IMINOGLYCINURIA, DIGENIC
2
1
1
1
1
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Default View:

SdaC - COG0814
Aa_trans - pfam01490


Swiss-Prot Protein: Q495M3
Identical to: NP_861441
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
Aa_transpfam014908e-8552464

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs10042608 Polymorphismp.ALA445VALN/A
Swiss-ProtVAR_064795Diseasep.GLY87VALIminoglycinuria (IG)
OMIM608331.0001 Diseasep.GLY87VALIMINOGLYCINURIA, DIGENIC||HYPERGLYCINURIA, INCLUDED



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