Results for the protein: O43520

Results for the Protein: O43520

229462999

5205

ATP8B1

NCBI, UniProt

AT8B1_HUMAN RecName: Full=Probable phospholipid-transporting ATPase IC; AltName: Full=ATPase class I type 8B member 1; AltName: Full=Familial intrahepatic cholestasis type 1

Known Diseases associated with this Protein:
  CHOLESTASIS OF PREGNANCY, INTRAHEPATIC 1 (ICP1)
  CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 1 (BRIC1)
  CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 1 (PFIC1)

26

14

0

0

40

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Default View: MgtA - COG0474 E1-E2_ATPase - pfam00122	Swiss-Prot Protein: O43520 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
E1-E2_ATPase	pfam00122	8.8e-07	146	421

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_055045	Polymorphism	p.ALA1152THR	N/A
Swiss-Prot	VAR_036499	Polymorphism	p.ALA886VAL	N/A
Swiss-Prot	VAR_043072	Disease	p.ARG867CYS	Cholestasis of pregnancy, intrahepatic 1 (ICP1)
Swiss-Prot	VAR_043063	Disease	p.ARG600GLN	Cholestasis, benign recurrent intrahepatic, 1 (BRIC1)
Swiss-Prot	VAR_029273	Polymorphism	p.ARG952GLN	N/A
Swiss-Prot	VAR_043051	Polymorphism	p.ARG384HIS	N/A
Swiss-Prot	VAR_043054	Disease	p.ARG412PRO	Cholestasis, progressive familial intrahepatic, 1 (PFIC1)
Swiss-Prot	VAR_043064	Disease	p.ARG600TRP	Cholestasis, benign recurrent intrahepatic, 1 (BRIC1)
Swiss-Prot	VAR_043065	Disease	p.ARG628TRP	Cholestasis, benign recurrent intrahepatic, 1 (BRIC1)
Swiss-Prot	VAR_043044	Disease	p.ASN45THR	Cholestasis of pregnancy, intrahepatic 1 (ICP1)
Swiss-Prot	VAR_015423	Disease	p.ASP554ASN	Cholestasis, progressive familial intrahepatic, 1 (PFIC1)
Swiss-Prot	VAR_043045	Polymorphism	p.ASP70ASN	N/A
Swiss-Prot	VAR_043057	Disease	p.ASP454GLY	Cholestasis, benign recurrent intrahepatic, 1 (BRIC1)
Swiss-Prot	VAR_043067	Disease	p.ASP688GLY	Cholestasis, progressive familial intrahepatic, 1 (PFIC1)
Swiss-Prot	VAR_043055	Polymorphism	p.GLU429ALA	N/A
Swiss-Prot	VAR_043073	Disease	p.GLY1040ARG	Cholestasis, progressive familial intrahepatic, 1 (PFIC1)
Swiss-Prot	VAR_043069	Disease	p.GLY733ARG	Cholestasis, progressive familial intrahepatic, 1 (PFIC1)
Swiss-Prot	VAR_008813	Disease	p.GLY892ARG	Cholestasis, progressive familial intrahepatic, 1 (PFIC1)
Swiss-Prot	VAR_043049	Disease	p.GLY308ASP	Cholestasis, benign recurrent intrahepatic, 1 (BRIC1)
Swiss-Prot	VAR_008810	Disease	p.GLY308VAL	Cholestasis, progressive familial intrahepatic, 1 (PFIC1)
Swiss-Prot	VAR_029271	Polymorphism	p.HIS78GLN	N/A
Swiss-Prot	VAR_043061	Disease	p.HIS535LEU	Cholestasis, progressive familial intrahepatic, 1 (PFIC1)
Swiss-Prot	VAR_036500	Polymorphism	p.ILE1178MET	N/A
Swiss-Prot	VAR_043050	Disease	p.ILE344PHE	Cholestasis, benign recurrent intrahepatic, 1 (BRIC1)
Swiss-Prot	VAR_008812	Disease	p.ILE661THR	Cholestasis, progressive familial intrahepatic, 1 (PFIC1)
Swiss-Prot	VAR_043068	Disease	p.ILE694THR	Cholestasis, benign recurrent intrahepatic, 1 (BRIC1)
Swiss-Prot	VAR_043052	Polymorphism	p.ILE393VAL	N/A
Swiss-Prot	VAR_029272	Polymorphism	p.ILE577VAL	N/A
Swiss-Prot	VAR_043046	Disease	p.LEU127PRO	Cholestasis, progressive familial intrahepatic, 1 (PFIC1)
Swiss-Prot	VAR_008809	Disease	p.LEU288SER	Cholestasis, progressive familial intrahepatic, 1 (PFIC1)
Swiss-Prot	VAR_043070	Polymorphism	p.LYS814ASN	N/A
Swiss-Prot	VAR_043047	Disease	p.LYS203GLU	Cholestasis of pregnancy, intrahepatic 1 (ICP1)
Swiss-Prot	VAR_043066	Polymorphism	p.MET674THR	N/A
Swiss-Prot	VAR_043048	Polymorphism	p.PHE305ILE	N/A
Swiss-Prot	VAR_043071	Disease	p.PHE853SER	Cholestasis, progressive familial intrahepatic, 1 (PFIC1)
Swiss-Prot	VAR_043062	Polymorphism	p.SER580ASN	N/A
Swiss-Prot	VAR_043053	Disease	p.SER403TYR	Cholestasis, progressive familial intrahepatic, 1 (PFIC1)
Swiss-Prot	VAR_043056	Disease	p.SER453TYR	Cholestasis, benign recurrent intrahepatic, 1 (BRIC1)
Swiss-Prot	VAR_043058	Disease	p.THR456MET	Cholestasis, progressive familial intrahepatic, 1 (PFIC1)
Swiss-Prot	VAR_043059	Disease	p.TYR500HIS	Cholestasis, progressive familial intrahepatic, 1 (PFIC1)

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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