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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P21439: Variant p.Gly535Asp

Phosphatidylcholine translocator ABCB4
Gene: ABCB4
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Variant information Variant position: help 535
Type of variant: help LP/P [Disclaimer]
Residue change: help From Glycine (G) to Aspartate (D) at position 535 (G535D, p.Gly535Asp).
Physico-chemical properties: help Change from glycine (G) to medium size and acidic (D)
BLOSUM score: help -1
Variant description: help In PFIC3; reduced phosphatidylcholine transporter activity; does not alter plasma membrane location.
Other resources: help


Sequence information Variant position: help 535
Protein sequence length: help 1286
Location on the sequence: help IMKLPQKFDTLVGERGAQLS G GQKQRIAIARALVRNPKILL
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 536 – 536
Helix 535 – 547



Literature citations
A multidrug resistance 3 gene mutation causing cholelithiasis, cholestasis of pregnancy, and adulthood biliary cirrhosis.
Lucena J.-F.; Herrero J.I.; Quiroga J.; Sangro B.; Garcia-Foncillas J.; Zabalegui N.; Sola J.; Herraiz M.; Medina J.F.; Prieto J.;
Gastroenterology 124:1037-1042(2003)
Cited for: VARIANT PFIC3 ASP-535; Functional defect of variants in the adenosine triphosphate-binding sites of ABCB4 and their rescue by the cystic fibrosis transmembrane conductance regulator potentiator, ivacaftor (VX-770).
Delaunay J.L.; Bruneau A.; Hoffmann B.; Durand-Schneider A.M.; Barbu V.; Jacquemin E.; Maurice M.; Housset C.; Callebaut I.; Ait-Slimane T.;
Hepatology 65:560-570(2017)
Cited for: CHARACTERIZATION OF VARIANTS GBD1 ARG-536; LEU-726; LEU-1183 AND SER-1185; CHARACTERIZATION OF VARIANT PFIC3 ASP-535; SUBCELLULAR LOCATION; FUNCTION;
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.