Results for the protein: P31639

Results for the Protein: P31639

400337

6524

SLC5A2

NCBI, UniProt

SC5A2_HUMAN RecName: Full=Sodium/glucose cotransporter 2; Short=Na(+)/glucose cotransporter 2; AltName: Full=Low affinity sodium-glucose cotransporter; AltName: Full=Solute carrier family 5 member 2

Known Diseases associated with this Protein:
  RENAL GLUCOSURIA
  RENAL GLUCOSURIA (GLYS1)
  RENAL GLUCOSURIA, AUTOSOMAL DOMINANT

5

1

4

1

1

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Default View: DhlC - COG4147 PutP - COG0591 COG4146 - COG4146 PanF - COG4145 SSF - pfam00474	Swiss-Prot Protein: P31639 Identical to: NP_003032 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
DhlC	COG4147	1.2e-05	17	567
COG4146	COG4146	2.1e-10	22	581
PanF	COG4145	3.9e-06	26	541
SSF	pfam00474	4e-264	55	492

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_019310	Disease	p.ASN654SER	Renal glucosuria (GLYS1)
dbSNP	rs61741237	Polymorphism	p.THR629ALA	N/A
OMIM	182381.0005	Disease	p.ARG479GLY	RENAL GLUCOSURIA
OMIM	182381.0002	Disease	p.ASN654SER	RENAL GLUCOSURIA
OMIM	182381.0006	Disease	p.PHE98LEU	RENAL GLUCOSURIA, AUTOSOMAL DOMINANT
OMIM	182381.0001	Disease	p.TRP440TER	RENAL GLUCOSURIA

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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