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Results for the Protein: P13866
127803

SC5A1_HUMAN RecName: Full=Sodium/glucose cotransporter 1; Short=Na(+)/glucose cotransporter 1; AltName: Full=High affinity sodium-glucose cotransporter; AltName: Full=Solute carrier family 5 member 1

Known Diseases associated with this Protein:
  CONGENITAL GLUCOSE/GALACTOSE MALABSORPTION (GGM)
  GLUCOSE/GALACTOSE MALABSORPTION
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Default View:

PutP - COG0591
DhlC - COG4147
COG4146 - COG4146
PanF - COG4145
SSF - pfam00474


Swiss-Prot Protein: P13866
Identical to: NP_000334
   Default View:







Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
COG4146COG41462.8e-1024567
DhlCCOG41473.3e-0724567
PanFCOG41452.8e-0627554
SSFpfam004744.4e-27158492

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs17683430 Polymorphismp.ALA411THRN/A
Swiss-ProtVAR_021504Diseasep.ALA468VALCongenital glucose/galactose malabsorption (GGM)
Swiss-ProtVAR_021502Diseasep.ARG135TRPCongenital glucose/galactose malabsorption (GGM)
dbSNPrs17683011 Polymorphismp.ASN51SERN/A
Swiss-ProtVAR_007168Diseasep.ASP28ASNCongenital glucose/galactose malabsorption (GGM)
Swiss-ProtVAR_013630Diseasep.ASP28GLYCongenital glucose/galactose malabsorption (GGM)
Swiss-ProtVAR_021503Diseasep.GLY318ARGCongenital glucose/galactose malabsorption (GGM)
dbSNPrs33954001 Polymorphismp.HIS615GLNN/A
OMIM182380.0001 Diseasep.ASP28ASNGLUCOSE/GALACTOSE MALABSORPTION
OMIM182380.0002 Diseasep.ASP28GLYGLUCOSE/GALACTOSE MALABSORPTION



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