Results for the protein: P02730

Results for the Protein: P02730

114787

6521

SLC4A1

NCBI, UniProt

B3AT_HUMAN RecName: Full=Band 3 anion transport protein; AltName: Full=Anion exchange protein 1; Short=AE 1; Short=Anion exchanger 1; AltName: Full=Solute carrier family 4 member 1; AltName: CD_antigen=CD233

Known Diseases associated with this Protein:
  ACANTHOCYTOSIS DUE TO BAND 3 HT
  BAND 3 MEMPHIS
  DIEGO BLOOD GROUP ANTIGEN
  FROESE BLOOD GROUP ANTIGEN
  RENAL TUBULAR ACIDOSIS, AUTOSOMAL DOMINANT
  RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL DOMINANT
  RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL DOMINANT (AD-DRTA)
  RENAL TUBULAR ACIDOSIS, DISTAL, WITH HEMOLYTIC ANEMIA
  RENAL TUBULAR ACIDOSIS, DISTAL, WITH HEMOLYTIC ANEMIA (DRTA-HA)
  RENAL TUBULAR ACIDOSIS, DISTAL, WITH HEMOLYTIC ANEMIA, INCLUDED
  RENAL TUBULAR ACIDOSIS, DISTAL, WITH NORMAL RED CELL MORPHOLOGY
  RENAL TUBULAR ACIDOSIS, DISTAL, WITH NORMAL RED CELL MORPHOLOGY (DRTA-NRC)
  SPHEROCYTOSIS 4 (SPH4)
  SPHEROCYTOSIS, TYPE 4, DUE TO BAND 3 CAPE TOWN
  SPHEROCYTOSIS, TYPE 4, DUE TO BAND 3 CHUR
  SPHEROCYTOSIS, TYPE 4, DUE TO BAND 3 COIMBRA
  SPHEROCYTOSIS, TYPE 4, DUE TO BAND 3 FUKUOKA
  SPHEROCYTOSIS, TYPE 4, DUE TO BAND 3 LYON
  SPHEROCYTOSIS, TYPE 4, DUE TO BAND 3 MONTEFIORE
  SPHEROCYTOSIS, TYPE 4, DUE TO BAND 3 NOIRTERRE
  SPHEROCYTOSIS, TYPE 4, DUE TO BAND 3 PRAGUE II
  SPHEROCYTOSIS, TYPE 4, DUE TO BAND 3 PRAGUE III
  SPHEROCYTOSIS, TYPE 4, DUE TO BAND 3 TOKYO
  SPHEROCYTOSIS, TYPE 4, DUE TO BAND 3 TUSCALOOSA
  SWANN BLOOD GROUP ANTIGEN
  WALDNER BLOOD GROUP ANTIGEN
  WRIGHT BLOOD GROUP ANTIGEN

65

37

27

4

71

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Default View: Band_3_cyto - pfam07565	Swiss-Prot Protein: P02730 Identical to: NP_000333 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 ↕
Swiss-Prot	VAR_013787	Disease	p.ALA285ASP	Spherocytosis 4 (SPH4)
Swiss-Prot	VAR_015108	Disease	p.ALA858ASP	Renal tubular acidosis, distal, autosomal dominant (AD-dRTA)
Swiss-Prot	VAR_013792	Disease	p.ARG490CYS	Spherocytosis 4 (SPH4)
Swiss-Prot	VAR_000802	Disease	p.ARG518CYS	Spherocytosis 4 (SPH4)
Swiss-Prot	VAR_015104	Disease	p.ARG589CYS	Renal tubular acidosis, distal, autosomal dominant (AD-dRTA)
Swiss-Prot	VAR_013802	Polymorphism	p.ARG656CYS	N/A
Swiss-Prot	VAR_013810	Disease	p.ARG808CYS	Spherocytosis 4 (SPH4)
Swiss-Prot	VAR_013800	Polymorphism	p.ARG646GLN	N/A
Swiss-Prot	VAR_013806	Disease	p.ARG760GLN	Spherocytosis 4 (SPH4)
Swiss-Prot	VAR_058039	Disease	p.ARG490HIS	Spherocytosis 4 (SPH4)
Swiss-Prot	VAR_015105	Disease	p.ARG589HIS	Renal tubular acidosis, distal, autosomal dominant (AD-dRTA)
Swiss-Prot	VAR_013803	Polymorphism	p.ARG656HIS	N/A
Swiss-Prot	VAR_013811	Disease	p.ARG808HIS	Spherocytosis 4 (SPH4)
Swiss-Prot	VAR_014618	Polymorphism	p.ARG832HIS	N/A
Swiss-Prot	VAR_039292	Disease	p.ARG602PRO	Renal tubular acidosis, distal, with hemolytic anemia (dRTA-HA)
Swiss-Prot	VAR_014613	Polymorphism	p.ARG112SER	N/A
Swiss-Prot	VAR_015106	Disease	p.ARG589SER	Renal tubular acidosis, distal, autosomal dominant (AD-dRTA)
Swiss-Prot	VAR_013788	Polymorphism	p.ARG432TRP	N/A
Swiss-Prot	VAR_013801	Polymorphism	p.ARG646TRP	N/A
Swiss-Prot	VAR_013807	Disease	p.ARG760TRP	Spherocytosis 4 (SPH4)
Swiss-Prot	VAR_013816	Disease	p.ARG870TRP	Spherocytosis 4 (SPH4)
Swiss-Prot	VAR_013799	Polymorphism	p.ASN569LYS	N/A
dbSNP	rs5035	Polymorphism	p.ASP38ALA	N/A
dbSNP	rs34700496	Polymorphism	p.ASP45GLU	N/A
Swiss-Prot	VAR_039294	Disease	p.ASP705TYR	Spherocytosis 4 (SPH4)
Swiss-Prot	VAR_058037	Polymorphism	p.GLU429ASP	N/A
Swiss-Prot	VAR_058036	Polymorphism	p.GLU72ASP	N/A
Swiss-Prot	VAR_000798	Polymorphism	p.GLU40LYS	N/A
Swiss-Prot	VAR_013790	Polymorphism	p.GLU480LYS	N/A
Swiss-Prot	VAR_025090	Polymorphism	p.GLU508LYS	N/A
Swiss-Prot	VAR_000806	Polymorphism	p.GLU658LYS	N/A
Swiss-Prot	VAR_039290	Polymorphism	p.GLU68LYS	N/A
Swiss-Prot	VAR_013784	Disease	p.GLU90LYS	Spherocytosis 4 (SPH4)
Swiss-Prot	VAR_013796	Polymorphism	p.GLY565ALA	N/A
Swiss-Prot	VAR_013785	Disease	p.GLY130ARG	Spherocytosis 4 (SPH4)
Swiss-Prot	VAR_058038	Disease	p.GLY455ARG	Spherocytosis 4 (SPH4)
Swiss-Prot	VAR_058041	Disease	p.GLY609ARG	Renal tubular acidosis, distal, autosomal dominant (AD-dRTA)
Swiss-Prot	VAR_013805	Disease	p.GLY714ARG	Spherocytosis 4 (SPH4)
Swiss-Prot	VAR_015171	Disease	p.GLY701ASP	Renal tubular acidosis, distal, with hemolytic anemia (dRTA-HA)
Swiss-Prot	VAR_013808	Disease	p.GLY771ASP	Spherocytosis 4 (SPH4)
Swiss-Prot	VAR_013789	Disease	p.GLY455GLU	Spherocytosis 4 (SPH4)
Swiss-Prot	VAR_039296	Disease	p.HIS734ARG	Spherocytosis 4 (SPH4)
Swiss-Prot	VAR_013812	Disease	p.HIS834PRO	Spherocytosis 4 (SPH4)
Swiss-Prot	VAR_013809	Disease	p.ILE783ASN	Spherocytosis 4 (SPH4)
Swiss-Prot	VAR_014614	Polymorphism	p.ILE442PHE	N/A
Swiss-Prot	VAR_014616	Polymorphism	p.ILE688VAL	N/A
Swiss-Prot	VAR_039291	Polymorphism	p.LEU73MET	N/A
Swiss-Prot	VAR_039293	Disease	p.LEU687PRO	Spherocytosis 4 (SPH4)
Swiss-Prot	VAR_013804	Disease	p.LEU707PRO	Spherocytosis 4 (SPH4)
Swiss-Prot	VAR_013793	Polymorphism	p.LYS551ASN	N/A
dbSNP	rs5036	Polymorphism	p.LYS56GLU	N/A
Swiss-Prot	VAR_014615	Polymorphism	p.MET586LEU	N/A
Swiss-Prot	VAR_058042	Disease	p.MET663LYS	Spherocytosis 4 (SPH4)
Swiss-Prot	VAR_058040	Polymorphism	p.PRO561ALA	N/A
Swiss-Prot	VAR_013797	Polymorphism	p.PRO566ALA	N/A
Swiss-Prot	VAR_000800	Disease	p.PRO327ARG	Spherocytosis 4 (SPH4)
Swiss-Prot	VAR_058035	Polymorphism	p.PRO27HIS	N/A
Swiss-Prot	VAR_000803	Polymorphism	p.PRO548LEU	N/A
Swiss-Prot	VAR_000808	Polymorphism	p.PRO854LEU	N/A
Swiss-Prot	VAR_013815	Polymorphism	p.PRO868LEU	N/A
Swiss-Prot	VAR_013786	Disease	p.PRO147SER	Spherocytosis 4 (SPH4)
Swiss-Prot	VAR_013795	Polymorphism	p.PRO561SER	N/A
Swiss-Prot	VAR_013798	Polymorphism	p.PRO566SER	N/A
Swiss-Prot	VAR_014617	Polymorphism	p.SER690GLY	N/A
Swiss-Prot	VAR_015107	Disease	p.SER613PHE	Renal tubular acidosis, distal, autosomal dominant (AD-dRTA)
Swiss-Prot	VAR_039295	Disease	p.SER731PRO	Spherocytosis 4 (SPH4)
Swiss-Prot	VAR_039297	Disease	p.SER773PRO	Renal tubular acidosis, distal, with normal red cell morphology (dRTA-NRC)
Swiss-Prot	VAR_013813	Disease	p.THR837ALA	Spherocytosis 4 (SPH4)
Swiss-Prot	VAR_058043	Disease	p.THR837ARG	Spherocytosis 4 (SPH4)
Swiss-Prot	VAR_000804	Polymorphism	p.THR552ILE	N/A
Swiss-Prot	VAR_013814	Disease	p.THR837MET	Spherocytosis 4 (SPH4)
Swiss-Prot	VAR_013794	Polymorphism	p.TYR555HIS	N/A
dbSNP	rs5026	Polymorphism	p.VAL862ILE	N/A
Swiss-Prot	VAR_013791	Disease	p.VAL488MET	Spherocytosis 4 (SPH4)
Swiss-Prot	VAR_000805	Polymorphism	p.VAL557MET	N/A
OMIM	109270.0020	Disease	p.ALA858ASP	RENAL TUBULAR ACIDOSIS, AUTOSOMAL DOMINANT
OMIM	109270.0013	Disease	p.ARG589CYS	RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL DOMINANT
OMIM	109270.0030	Disease	p.ARG646GLN	SWANN BLOOD GROUP ANTIGEN
OMIM	109270.0028	Disease	p.ARG760GLN	SPHEROCYTOSIS, TYPE 4, DUE TO BAND 3 PRAGUE II
OMIM	109270.0012	Disease	p.ARG589HIS	RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL DOMINANT
OMIM	109270.0027	Disease	p.ARG602PRO	RENAL TUBULAR ACIDOSIS, DISTAL, WITH HEMOLYTIC ANEMIA
OMIM	109270.0015	Disease	p.ARG589SER	RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL DOMINANT
OMIM	109270.0009	Disease	p.ARG150TER	SPHEROCYTOSIS, TYPE 4, DUE TO BAND 3 LYON
OMIM	109270.0031	Disease	p.ARG646TRP	SWANN BLOOD GROUP ANTIGEN
OMIM	109270.0024	Disease	p.ARG870TRP	SPHEROCYTOSIS, TYPE 4, DUE TO BAND 3 PRAGUE III
OMIM	109270.0008	Disease	p.GLN330TER	SPHEROCYTOSIS, TYPE 4, DUE TO BAND 3 NOIRTERRE
OMIM	109270.0004	Disease	p.GLU40LYS	SPHEROCYTOSIS, TYPE 4, DUE TO BAND 3 MONTEFIORE
OMIM	109270.0029	Disease	p.GLU480LYS	FROESE BLOOD GROUP ANTIGEN
OMIM	109270.0006	Disease	p.GLU658LYS	WRIGHT BLOOD GROUP ANTIGEN
OMIM	109270.0023	Disease	p.GLU90LYS	SPHEROCYTOSIS, TYPE 4, DUE TO BAND 3 CAPE TOWN
OMIM	109270.0018	Disease	p.GLY130ARG	SPHEROCYTOSIS, TYPE 4, DUE TO BAND 3 FUKUOKA
OMIM	109270.0016	Disease	p.GLY701ASP	RENAL TUBULAR ACIDOSIS, DISTAL, WITH HEMOLYTIC ANEMIA
OMIM	109270.0007	Disease	p.GLY771ASP	SPHEROCYTOSIS, TYPE 4, DUE TO BAND 3 CHUR
OMIM	109270.0001	Disease	p.LYS56GLU	BAND 3 MEMPHIS
OMIM	109270.0003	Disease	p.PRO327ARG	SPHEROCYTOSIS, TYPE 4, DUE TO BAND 3 TUSCALOOSA
OMIM	109270.0017	Disease	p.PRO854LEU	DIEGO BLOOD GROUP ANTIGEN
OMIM	109270.0032	Disease	p.PRO878LEU	ACANTHOCYTOSIS DUE TO BAND 3 HT
OMIM	109270.0014	Disease	p.SER613PHE	RENAL TUBULAR ACIDOSIS, DISTAL, AUTOSOMAL DOMINANT
OMIM	109270.0026	Disease	p.SER773PRO	RENAL TUBULAR ACIDOSIS, DISTAL, WITH NORMAL RED CELL MORPHOLOGY
OMIM	109270.0019	Disease	p.THR837ALA	SPHEROCYTOSIS, TYPE 4, DUE TO BAND 3 TOKYO
OMIM	109270.0022	Disease	p.VAL488MET	SPHEROCYTOSIS, TYPE 4, DUE TO BAND 3 COIMBRA\|\|RENAL TUBULAR ACIDOSIS, DISTAL, WITH HEMOLYTIC ANEMIA, INCLUDED
OMIM	109270.0011	Disease	p.VAL557MET	WALDNER BLOOD GROUP ANTIGEN

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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