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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O95342: Variant p.Ser56Leu

Bile salt export pump
Gene: ABCB11
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Variant information Variant position: help 56
Type of variant: help LB/B
Residue change: help From Serine (S) to Leucine (L) at position 56 (S56L, p.Ser56Leu).
Physico-chemical properties: help Change from small size and polar (S) to medium size and hydrophobic (L)
BLOSUM score: help -2
Variant description: help Does not affect taurocholate transport activity; does not affect cell surface protein expression.
Other resources: help


Sequence information Variant position: help 56
Protein sequence length: help 1321
Location on the sequence: help DEKKGDGVRVGFFQLFRFSS S TDIWLMFVGSLCAFLHGIAQ
Residue conservation: help 
Human                         DEKKGDGVRVGFFQLFRFSSSTDIWLMFVGSLCAFLHGIAQ

Mouse                         DKKKGEGARVGFFELFRFSSSKDNWLMFMGSVCALLHGMAQ

Rat                           DKMKEGDIRVGFFELFRFSSSKDIWLMLMGGVCALLHGMAQ

Rabbit                        DKKKSDSVRIGFFQLFRFSSWTDIWLMCMGSLCACIHGIAQ
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 1321 Bile salt export pump
Topological domain 1 – 62 Cytoplasmic
Mutagenesis 1 – 441 Missing. Does not affect ATPase-coupled bile acid transport activity. Decreases protein stability.
Helix 56 – 99



Literature citations
Polymorphic variants in the human bile salt export pump (BSEP; ABCB11): functional characterization and interindividual variability.
Ho R.H.; Leake B.F.; Kilkenny D.M.; Meyer Zu Schwabedissen H.E.; Glaeser H.; Kroetz D.L.; Kim R.B.;
Pharmacogenet. Genomics 20:45-57(2010)
Cited for: VARIANTS LEU-56; VAL-206; ALA-444; HIS-558; SER-591; GLN-592; VAL-677 AND LYS-1186; CHARACTERIZATION OF VARIANTS LEU-56; VAL-206; ALA-444; HIS-558; SER-591; GLN-592; VAL-677 AND LYS-1186; VARIANT PFIC2 GLY-297; CHARACTERIZATION OF VARIANTS PFIC2 GLY-297; ARG-982 AND CYS-1153; FUNCTION; CATALYTIC ACTIVITY; SUBCELLULAR LOCATION;
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.