Variant position: 454 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 AKARTTTLNEQLGQIHYIFS DKTGTLTQNIMTFKKCCINGQ
Mouse AKARTTTLNEQLGQIHYIFS DKTGTLTQNIMTFKKCCINGT
Xenopus tropicalis AKARTTTLNEQLGQIQYIFS DKTGTLTQNIMTFKKCTINGT
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
454 – 454 4-aspartylphosphate intermediate
454 – 454 D -> A. Greatly reduced expression due to proteosomal degradation; abolishes interaction with TMEM30A.
Characterization of mutations in ATP8B1 associated with hereditary cholestasis.
Klomp L.W.J.; Vargas J.C.; van Mil S.W.C.; Pawlikowska L.; Strautnieks S.S.; van Eijk M.J.T.; Juijn J.A.; Pabon-Pena C.; Smith L.B.; DeYoung J.A.; Byrne J.A.; Gombert J.; van der Brugge G.; Berger R.; Jankowska I.; Pawlowska J.; Villa E.; Knisely A.S.; Thompson R.J.; Freimer N.B.; Houwen R.H.J.; Bull L.N.;
Cited for: VARIANTS PFIC1 PRO-127; TYR-403; PRO-412; MET-456; HIS-500; PHE-529 DEL; LEU-535; ASN-554; THR-661; GLY-688; ARG-733; SER-853; ARG-892 AND ARG-1040; VARIANTS BRIC1 ASN-70; ASP-308; PHE-344; TYR-453; GLY-454; TRP-600; GLN-600; TRP-628; THR-661; THR-694 AND ARG-892; VARIANT ALA-429;
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