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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P21439: Variant p.Val425Met

Phosphatidylcholine translocator ABCB4
Gene: ABCB4
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Variant information Variant position: help 425
Type of variant: help LP/P [Disclaimer]
Residue change: help From Valine (V) to Methionine (M) at position 425 (V425M, p.Val425Met).
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and hydrophobic.
BLOSUM score: help 1
Variant description: help In PFIC3.


Sequence information Variant position: help 425
Protein sequence length: help 1286
Location on the sequence: help SRANVKILKGLNLKVQSGQT V ALVGSSGCGKSTTVQLIQRL
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 1286 Phosphatidylcholine translocator ABCB4
Topological domain 355 – 711 Cytoplasmic
Domain 394 – 630 ABC transporter 1
Binding site 406 – 406
Mutagenesis 435 – 435 K -> M. Inhibits efflux activity for PC and cholesterol, but does not alter glycosylation and surface expression in the presence of taurocholate.
Beta strand 424 – 428



Literature citations
The wide spectrum of multidrug resistance 3 deficiency: from neonatal cholestasis to cirrhosis of adulthood.
Jacquemin E.; De Vree J.M.L.; Cresteil D.; Sokal E.M.; Sturm E.; Dumont M.; Scheffer G.L.; Paul M.; Burdelski M.; Bosma P.J.; Bernard O.; Hadchouel M.; Elferink R.P.;
Gastroenterology 120:1448-1458(2001)
Cited for: VARIANTS PFIC3 ARG-138; ILE-346; GLY-395; ALA-424; MET-425; PHE-541; ARG-556; GLY-564; SER-711 AND SER-983; VARIANT GLY-652;
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.