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UniProtKB/Swiss-Prot P21439: Variant p.Thr775Met

Phosphatidylcholine translocator ABCB4
Gene: ABCB4
Variant information

Variant position:  775
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 Threonine (T) to Methionine (M) at position 775 (T775M, p.Thr775Met).
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 medium size and polar (T) to medium size and hydrophobic (M)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -1
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:  Found in patients with cholangitis; unknown pathological significance.
Any additional useful information about the variant.

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

Sequence information

Variant position:  775
The position of the amino-acid change on the UniProtKB canonical protein sequence.

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

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.

Chain 1 – 1286 Phosphatidylcholine translocator ABCB4
Transmembrane 756 – 776 Helical
Domain 711 – 999 ABC transmembrane type-1 2
Helix 747 – 795

Literature citations

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;

Molecular characterization and structural implications of 25 new ABCB4 mutations in progressive familial intrahepatic cholestasis type 3 (PFIC3).
Degiorgio D.; Colombo C.; Seia M.; Porcaro L.; Costantino L.; Zazzeron L.; Bordo D.; Coviello D.A.;
Eur. J. Hum. Genet. 15:1230-1238(2007)
Cited for: VARIANTS PFIC3 GLU-126; PRO-250; VAL-286; PHE-320; LEU-357; VAL-364; HIS-403; ALA-475; THR-511; LYS-558; ALA-593; VAL-630; PRO-701; ILE-715; GLU-723; THR-726; VAL-737; ASP-840; SER-954 AND THR-1193; VARIANTS ALA-175; GLN-590 AND MET-775;

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;

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.