Results for the protein: NP

Results for the Protein: NP_005594

5031697

5205

ATP8B1

NCBI

probable phospholipid-transporting ATPase IC [Homo sapiens]

Known Diseases associated with this Protein:
  CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 1
  CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1
  CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1
  CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1, INCLUDED

9

7

9

7

0

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Default View: MgtA - COG0474 E1-E2_ATPase - pfam00122	RefSeq Protein: NP_005594 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 ↕
dbSNP	rs12968116	Polymorphism	p.ARG952GLN	N/A
dbSNP	rs34719006	Polymorphism	p.ASP70ASN	N/A
dbSNP	rs3745079	Polymorphism	p.HIS78GLN	N/A
dbSNP	rs34315917	Polymorphism	p.ILE393VAL	N/A
dbSNP	rs3745078	Polymorphism	p.ILE577VAL	N/A
dbSNP	rs34018300	Polymorphism	p.LYS814ASN	N/A
dbSNP	rs33963153	Polymorphism	p.SER580ASN	N/A
OMIM	602397.0011	Disease	p.ARG867CYS	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1
OMIM	602397.0013	Disease	p.ARG602TER	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1
OMIM	602397.0008	Disease	p.ASP554ASN	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1
OMIM	602397.0010	Disease	p.ASP70ASN	CHOLESTASIS, INTRAHEPATIC, OF PREGNANCY, 1
OMIM	602397.0002	Disease	p.GLY892ARG	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1
OMIM	602397.0001	Disease	p.GLY308VAL	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1
OMIM	602397.0006	Disease	p.ILE661THR	CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC 1\|\|CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1, INCLUDED
OMIM	602397.0003	Disease	p.LEU288SER	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1
OMIM	602397.0012	Disease	p.THR456MET	CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC 1

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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