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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O95342: Variant p.Asp482Gly

Bile salt export pump
Gene: ABCB11
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Variant information Variant position: help 482 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Aspartate (D) to Glycine (G) at position 482 (D482G, p.Asp482Gly). 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: help Change from medium size and acidic (D) to glycine (G) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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: help In PFIC2; decreases protein expression; affects maturation of protein in the reticulum endoplasmic; decreases apical membrane localization; affects cell surface expression; does not affect transport of taurocholate and glycocholate; enhances ubiquitination susceptibility. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 482 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1321 The length of the canonical sequence.
Location on the sequence: help STALQLIQRFYDPCEGMVTV D GHDIRSLNIQWLRDQIGIVE 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.
Residue conservation: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         STALQLIQRFYDPCEGMVTVDGHDIRSLNIQWLRDQIGIVE

Mouse                         STALQLIQRFYDPCEGMVTLDGHDIRSLNIRWLRDQIGIVE

Rat                           STALQLIQRFYDPCEGMVTLDGHDIRSLNIRWLRDQIGIVE

Rabbit                        STALQLIHRFYGPTEGMVTVESHDIRSSHIQWLRNQIGIVE
Sequence annotation in neighborhood: help 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 – 1321 Bile salt export pump
Topological domain 375 – 755 Cytoplasmic
Domain 420 – 656 ABC transporter 1
Beta strand 479 – 486



Literature citations
A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis.
Strautnieks S.S.; Bull L.N.; Knisely A.S.; Kocoshis S.A.; Dahl N.; Arnell H.; Sokal E.M.; Dahan K.; Childs S.; Ling V.; Tanner M.S.; Kagalwalla A.F.; Nemeth A.; Pawlowska J.; Baker A.; Mieli-Vergani G.; Freimer N.B.; Gardiner R.M.; Thompson R.J.;
Nat. Genet. 20:233-238(1998)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANTS PFIC2 GLY-297; GLU-461; GLY-482; ARG-982; CYS-1153 AND GLN-1268; Two common PFIC2 mutations are associated with the impaired membrane trafficking of BSEP/ABCB11.
Hayashi H.; Takada T.; Suzuki H.; Akita H.; Sugiyama Y.;
Hepatology 41:916-924(2005)
Cited for: CHARACTERIZATION OF VARIANTS PFIC2 GLY-297 AND GLY-482; CATALYTIC ACTIVITY; FUNCTION; SUBCELLULAR LOCATION; BIOPHYSICOCHEMICAL PROPERTIES; GLYCOSYLATION;
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.