Results for the protein: P40879

Results for the Protein: P40879

729367

1811

SLC26A3

NCBI, UniProt

S26A3_HUMAN RecName: Full=Chloride anion exchanger; AltName: Full=Down-regulated in adenoma; Short=Protein DRA; AltName: Full=Solute carrier family 26 member 3

Known Diseases associated with this Protein:
DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL
DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL (DIAR1)

21

5

3

5

18

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Default View:	Swiss-Prot Protein: P40879 Identical to: NP_000102 Default View:

Domains found on the Protein

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

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs2301635	Polymorphism	p.ARG554GLN	N/A
dbSNP	rs10280704	Polymorphism	p.ARG68GLN	N/A
dbSNP	rs35342296	Polymorphism	p.ASN753SER	N/A
Swiss-Prot	VAR_066075	Disease	p.ASP652ASN	Diarrhea 1, secretory chloride, congenital (DIAR1)
Swiss-Prot	VAR_012778	Disease	p.ASP468VAL	Diarrhea 1, secretory chloride, congenital (DIAR1)
dbSNP	rs34407351	Polymorphism	p.CYS307TRP	N/A
Swiss-Prot	VAR_066067	Disease	p.CYS343TYR	Diarrhea 1, secretory chloride, congenital (DIAR1)
Swiss-Prot	VAR_066069	Disease	p.GLY379ALA	Diarrhea 1, secretory chloride, congenital (DIAR1)
Swiss-Prot	VAR_007428	Disease	p.GLY120SER	Diarrhea 1, secretory chloride, congenital (DIAR1)
Swiss-Prot	VAR_007429	Disease	p.HIS124LEU	Diarrhea 1, secretory chloride, congenital (DIAR1)
Swiss-Prot	VAR_066066	Disease	p.HIS220PRO	Diarrhea 1, secretory chloride, congenital (DIAR1)
Swiss-Prot	VAR_066074	Disease	p.ILE544ASN	Diarrhea 1, secretory chloride, congenital (DIAR1)
Swiss-Prot	VAR_066071	Disease	p.LEU496ARG	Diarrhea 1, secretory chloride, congenital (DIAR1)
Swiss-Prot	VAR_066073	Disease	p.LYS521ASN	Diarrhea 1, secretory chloride, congenital (DIAR1)
Swiss-Prot	VAR_066064	Disease	p.MET136ILE	Diarrhea 1, secretory chloride, congenital (DIAR1)
Swiss-Prot	VAR_007430	Disease	p.PRO131ARG	Diarrhea 1, secretory chloride, congenital (DIAR1)
Swiss-Prot	VAR_066062	Disease	p.PRO129LEU	Diarrhea 1, secretory chloride, congenital (DIAR1)
Swiss-Prot	VAR_066063	Disease	p.PRO131LEU	Diarrhea 1, secretory chloride, congenital (DIAR1)
Swiss-Prot	VAR_066070	Disease	p.SER398PHE	Diarrhea 1, secretory chloride, congenital (DIAR1)
Swiss-Prot	VAR_012777	Disease	p.SER206PRO	Diarrhea 1, secretory chloride, congenital (DIAR1)
dbSNP	rs60147601	Polymorphism	p.THR510MET	N/A
Swiss-Prot	VAR_066065	Disease	p.TYR204ASP	Diarrhea 1, secretory chloride, congenital (DIAR1)
Swiss-Prot	VAR_066072	Disease	p.TYR520CYS	Diarrhea 1, secretory chloride, congenital (DIAR1)
OMIM	126650.0006	Disease	p.GLY187TER	DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL
OMIM	126650.0002	Disease	p.HIS124LEU	DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL
OMIM	126650.0008	Disease	p.TRP462TER	DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL

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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