Variant position: 472 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 ALVGPSGAGKSTALQLIQRF YDPCEGMVTVDGHDIRSLNIQ
Mouse AFVGSSGAGKSTALQLIQRF YDPCEGMVTLDGHDIRSLNIR
Rat ALVGSSGAGKSTALQLIQRF YDPCEGMVTLDGHDIRSLNIR
Rabbit ALVGPSGAGKSTALQLIHRF YGPTEGMVTVESHDIRSSHIQ
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
375 – 755 Cytoplasmic
420 – 656 ABC transporter 1
Diagnosis of ABCB11 gene mutations in children with intrahepatic cholestasis using high resolution melting analysis and direct sequencing.
Hu G.; He P.; Liu Z.; Chen Q.; Zheng B.; Zhang Q.;
Mol. Med. Report. 10:1264-1274(2014)
Cited for: VARIANTS PFIC2 HIS-337; CYS-472; TRP-696; PRO-931; VAL-1131 AND ARG-1198; VARIANTS ALA-444 AND VAL-865;
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.