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UniProtKB/Swiss-Prot P21439: Variant p.Arg47Gly

Phosphatidylcholine translocator ABCB4
Gene: ABCB4
Chromosomal location: 7q21.1
Variant information

Variant position:  47
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
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 Arginine (R) to Glycine (G) at position 47 (R47G, p.Arg47Gly).
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:  Change from large size and basic (R) to glycine (G)
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

Involvement in disease:  Gallbladder disease 1 (GBD1) [MIM:600803]: One of the major digestive diseases. Gallstones composed of cholesterol (cholelithiasis) are the common manifestations in western countries. Most people with gallstones, however, remain asymptomatic through their lifetimes. {ECO:0000269|PubMed:11313316, ECO:0000269|PubMed:12891548, ECO:0000269|PubMed:22331132, ECO:0000269|PubMed:23533021, ECO:0000269|PubMed:24723470, ECO:0000269|PubMed:28012258, ECO:0000269|Ref.2}. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In GBD1; partly retained intracellularly; reduces efflux activity for PC in a phosphorylation-dependent manner.
Any additional useful information about the variant.



Sequence information

Variant position:  47
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:   SKQKRKKTKTVKMIGVLTLF  R YSDWQDKLFMSLGTIMAIAH
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 1 – 50 Cytoplasmic
Modified residue 27 – 27 Phosphoserine
Modified residue 34 – 34 Phosphothreonine
Mutagenesis 34 – 34 T -> D. Does not inhibit efflux activity for PC.
Mutagenesis 44 – 44 T -> A. Reduces efflux activity for PC. Does not alter apical membrane location.
Mutagenesis 49 – 49 S -> A. Reduces efflux activity for PC. Does not alter apical membrane location.


Literature citations

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;

Phosphorylation of ABCB4 impacts its function: insights from disease-causing mutations.
Gautherot J.; Delautier D.; Maubert M.A.; Ait-Slimane T.; Bolbach G.; Delaunay J.L.; Durand-Schneider A.M.; Firrincieli D.; Barbu V.; Chignard N.; Housset C.; Maurice M.; Falguieres T.;
Hepatology 60:610-621(2014)
Cited for: VARIANTS GBD1 MET-34 AND GLY-47; CHARACTERIZATION OF VARIANTS GBD1 MET-34 AND GLY-47; FUNCTION; SUBCELLULAR LOCATION; PHOSPHORYLATION AT THR-34; GLYCOSYLATION; MUTAGENESIS OF THR-34; THR-44 AND SER-49; IDENTIFICATION BY MASS SPECTROMETRY;

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.