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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P21439: Variant p.Leu1082Gln

Phosphatidylcholine translocator ABCB4
Gene: ABCB4
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Variant information Variant position: help 1082
Type of variant: help LB/B
Residue change: help From Leucine (L) to Glutamine (Q) at position 1082 (L1082Q, p.Leu1082Gln).
Physico-chemical properties: help Change from medium size and hydrophobic (L) to medium size and polar (Q)
BLOSUM score: help -2
Variant description: help In a heterozygous patient with amoxicillin/clavulanic acid-induced cholestasis.
Other resources: help


Sequence information Variant position: help 1082
Protein sequence length: help 1286
Location on the sequence: help GQTLALVGSSGCGKSTVVQL L ERFYDPLAGTVFVDFGFQLL
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 1286 Phosphatidylcholine translocator ABCB4
Topological domain 995 – 1286 Cytoplasmic
Domain 1034 – 1279 ABC transporter 2
Mutagenesis 1075 – 1075 K -> M. Inhibits efflux activity for PC and cholesterol, but does not alter glycosylation and surface expression in the presence of taurocholate.
Helix 1075 – 1083



Literature citations
Mutations and polymorphisms in the bile salt export pump and the multidrug resistance protein 3 associated with drug-induced liver injury.
Lang C.; Meier Y.; Stieger B.; Beuers U.; Lang T.; Kerb R.; Kullak-Ublick G.A.; Meier P.J.; Pauli-Magnus C.;
Pharmacogenet. Genomics 17:47-60(2007)
Cited for: VARIANTS ALA-175; GLN-590; GLY-652; LEU-764 AND GLN-1082;
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.