Home  |  Contact

UniProtKB/Swiss-Prot P21439: Variant p.Glu528Asp

Phosphatidylcholine translocator ABCB4
Gene: ABCB4
Variant information

Variant position:  528
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Unclassified
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Glutamate (E) to Aspartate (D) at position 528 (E528D, p.Glu528Asp).
Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:  Similar physico-chemical property. Both residues are medium size and acidic.
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  2
The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Variant description:  In GBD1; unknown pathological significance.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  528
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  1286
The length of the canonical sequence.

Location on the sequence:   EANAYEFIMKLPQKFDTLVG  E RGAQLSGGQKQRIAIARALV
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.

Sequence annotation in neighborhood:  
The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
  • Type: the type of sequence feature.
  • Positions: endpoints of the sequence feature.
  • Description: contains additional information about the feature.

TypePositionsDescription
Chain 1 – 1286 Phosphatidylcholine translocator ABCB4
Topological domain 355 – 711 Cytoplasmic
Domain 394 – 630 ABC transporter 1


Literature citations

Submission
NIEHS SNPs program;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT GBD1 ASP-528; VARIANTS VAL-238; VAL-263; GLN-590; ASN-651; GLY-652 AND GLN-788;

ABCB4 gene mutation-associated cholelithiasis in adults.
Rosmorduc O.; Hermelin B.; Boelle P.Y.; Parc R.; Taboury J.; Poupon R.;
Gastroenterology 125:452-459(2003)
Cited for: VARIANTS GBD1 ILE-165; THR-301; PHE-320; ASP-528; GLN-591 AND SER-1168; VARIANTS ALA-175; GLN-590; GLY-652; SER-742; GLN-788 AND THR-934;

Sequence analysis of bile salt export pump (ABCB11) and multidrug resistance p-glycoprotein 3 (ABCB4, MDR3) in patients with intrahepatic cholestasis of pregnancy.
Pauli-Magnus C.; Lang T.; Meier Y.; Zodan-Marin T.; Jung D.; Breymann C.; Zimmermann R.; Kenngott S.; Beuers U.; Reichel C.; Kerb R.; Penger A.; Meier P.J.; Kullak-Ublick G.A.;
Pharmacogenetics 14:91-102(2004)
Cited for: VARIANTS ALA-175; GLY-652 AND MET-775; VARIANTS ICP3 PHE-320; ASP-528 AND GLU-762;

Aspects of liver pathology in adult patients with MDR3/ABCB4 gene mutations.
Wendum D.; Barbu V.; Rosmorduc O.; Arrive L.; Flejou J.F.; Poupon R.;
Virchows Arch. 460:291-298(2012)
Cited for: VARIANTS GBD1 MET-34; GLY-47; VAL-286 AND ASP-528; VARIANTS GLN-47; ALA-175; PHE-320; GLN-406; MET-775 AND THR-964;

Genotype-phenotype relationships in the low-phospholipid-associated cholelithiasis syndrome: a study of 156 consecutive patients.
Poupon R.; Rosmorduc O.; Boelle P.Y.; Chretien Y.; Corpechot C.; Chazouilleres O.; Housset C.; Barbu V.;
Hepatology 58:1105-1110(2013)
Cited for: VARIANTS GBD1 GLY-47; HIS-71; VAL-73; CYS-78; PHE-99; SER-124; SER-154; ILE-165; VAL-286; THR-301; PHE-320; GLY-406; SER-510; THR-511; LYS-513; ASP-528; PHE-541; HIS-545; HIS-549; THR-589; GLN-591; MET-593; LYS-647; LEU-726; LEU-729; VAL-975 AND TRP-1084; VARIANTS ALA-175; GLN-590; GLN-788 AND THR-934;

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.