Variant position: 238 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1321 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 ALFIQRMTSTICGFLLGFFR GWKLTLVIISVSPLIGIGAAT
Mouse ALFLQRLSTALSGLLLGFYR GWKLTLVILAVSPLIGIGAAV
Rat AHFLQRMSTAMCGLLLGFYR GWKLTLVILAVSPLIGIGAAV
Rabbit AIFIQGMTSPIFGFLVGFSQ WWKLTLVIISVSPLIGLGAAI
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 – 1321 Bile salt export pump
237 – 240 Extracellular
62 – 385 ABC transmembrane type-1 1
Hepatocanalicular bile salt export pump deficiency in patients with progressive familial intrahepatic cholestasis.
Jansen P.L.M.; Strautnieks S.S.; Jacquemin E.; Hadchouel M.; Sokal E.M.; Hooiveld G.J.E.J.; Koning J.H.; De Jager-Krikken A.; Kuipers F.; Stellaard F.; Bijleveld C.M.; Gouw A.; Van Goor H.; Thompson R.J.; Muller M.;
Cited for: VARIANTS PFIC2 VAL-238 AND SER-336;
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