Variant position: 209 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 AKWKEIQVGDVIRLKKNDFV PADILLLSSSEPNSLCYVETA
Mouse IKWKDIQVGDVIRLKKNDFI PADILLLSSSEPNSLCYVETA
Rat IKWKDIQVGDVIRLKKNDFI PADILLLSSSEPNSLCYVETA
Xenopus tropicalis TKWKHIHVGDIIRINKNEFV PADVLLLSSSDPNSLCYVETA
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
157 – 340 Cytoplasmic
Characterization of ATP8B1 gene mutations and a hot-linked mutation found in Chinese children with progressive intrahepatic cholestasis and low GGT.
Liu L.Y.; Wang X.H.; Wang Z.L.; Zhu Q.R.; Wang J.S.;
J. Pediatr. Gastroenterol. Nutr. 50:179-183(2010)
Cited for: VARIANT PFIC1 THR-209;
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