Variant position: 867 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1251 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human EQRQKNFVDLACECSAVICC RVTPKQKAMVVDLVKRYKKAI
Mouse EQRQKNFVDLACECSAVICC RVTPKQKAMVVDLVKRYKKAI
Rat EQRQKNFVDLACECSAVICC RVTPKQKAMVVDLVKRYKKAI
Xenopus tropicalis EQRQRSFVDLACECSAVICC RVTPKQKAMVVDLVKRYKKAV
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
1 – 1251 Phospholipid-transporting ATPase IC
412 – 949 Cytoplasmic
ATP8B1 mutations in British cases with intrahepatic cholestasis of pregnancy.
Muellenbach R.; Bennett A.; Tetlow N.; Patel N.; Hamilton G.; Cheng F.; Chambers J.; Howard R.; Taylor-Robinson S.D.; Williamson C.;
Cited for: VARIANT ICP1 CYS-867; VARIANTS ASN-70; ILE-305 AND GLN-952;
Differential effects of progressive familial intrahepatic cholestasis type 1 and benign recurrent intrahepatic cholestasis type 1 mutations on canalicular localization of ATP8B1.
Folmer D.E.; van der Mark V.A.; Ho-Mok K.S.; Oude Elferink R.P.; Paulusma C.C.;
Cited for: CHARACTERIZATION OF VARIANTS PFIC1 VAL-308; ASN-554; THR-661 AND ARG-1040; CHARACTERIZATION OF VARIANTS BRIC1 ASN-70 AND THR-661; CHARACTERIZATION OF VARIANT ICP1 CYS-867; MUTAGENESIS OF ASP-454;
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