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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P21439: Variant p.Asp564Gly

Phosphatidylcholine translocator ABCB4
Gene: ABCB4
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Variant information Variant position: help 564
Type of variant: help LP/P [Disclaimer]
Residue change: help From Aspartate (D) to Glycine (G) at position 564 (D564G, p.Asp564Gly).
Physico-chemical properties: help Change from medium size and acidic (D) to glycine (G)
BLOSUM score: help -1
Variant description: help In PFIC3.


Sequence information Variant position: help 564
Protein sequence length: help 1286
Location on the sequence: help ARALVRNPKILLLDEATSAL D TESEAEVQAALDKAREGRTT
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 1286 Phosphatidylcholine translocator ABCB4
Topological domain 355 – 711 Cytoplasmic
Domain 394 – 630 ABC transporter 1
Mutagenesis 558 – 558 E -> Q. Loss of floppase activity. Strongly reduce the ATPase activity.



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.