Sequence information
Variant position: 1050 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:
ALGRAFSYTPSYAKAKISAA
R FFQLLDRQPPISVYNTAGEK
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 ALGRAFSYTPSYAKAKISAAR FFQLLDRQPPISVYNTAGEK
Mouse AVGRTFSYTPSYAKAKISAAR FFQLLDRKPPIDVYSGAGEK
Rat AVGRTFSYTPSYAKAKISAAR FFQLLDRKPPINVYSEAGEK
Rabbit ALGRASSYTPSYAKAKISAAR FFQLLDRQPPINVYSSAGEK
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.
Literature citations
Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11.
van Mil S.W.C.; van der Woerd W.L.; van der Brugge G.; Sturm E.; Jansen P.L.M.; Bull L.N.; van den Berg I.E.T.; Berger R.; Houwen R.H.J.; Klomp L.W.J.;
Gastroenterology 127:379-384(2004)
Cited for: VARIANTS BRIC2 GLY-186; GLY-297; THR-570; PRO-923; PRO-926; CYS-1050 AND HIS-1128;
Disclaimer:
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.