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UniProtKB/Swiss-Prot O95342: Variant p.Ala865Val

Bile salt export pump
Gene: ABCB11
Variant information Variant position: help 865 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LB/B 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 Alanine (A) to Valine (V) at position 865 (A865V, p.Ala865Val). 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 small size and hydrophobic (A) to medium size and hydrophobic (V) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 0 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 Might be associated with increased risk of intrahepatic stones; decreases protein expression; deacreases localization to the cell membrane; decreases the trafficking to the plasma membrane. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.

Sequence information Variant position: help 865 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 AWFDDLRNSPGALTTRLATD A SQVQGAAGSQIGMIVNSFTN 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.




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.
Chain 1 – 1321 Bile salt export pump
Topological domain 816 – 869 Cytoplasmic
Domain 755 – 1043 ABC transmembrane type-1 2
Beta strand 861 – 868

Literature citations
Genetic variability, haplotype structures, and ethnic diversity of hepatic transporters MDR3 (ABCB4) and bile salt export pump (ABCB11).
Lang T.; Haberl M.; Jung D.; Drescher A.; Schlagenhaufer R.; Keil A.; Mornhinweg E.; Stieger B.; Kullak-Ublick G.A.; Kerb R.;
Drug Metab. Dispos. 34:1582-1599(2006)
Cited for: VARIANTS VAL-206; ALA-284; LYS-299; ALA-444; GLY-616; ALA-619; VAL-677; HIS-698; VAL-865 AND GLN-958; Diagnosis of ABCB11 gene mutations in children with intrahepatic cholestasis using high resolution melting analysis and direct sequencing.
Hu G.; He P.; Liu Z.; Chen Q.; Zheng B.; Zhang Q.;
Mol. Med. Report. 10:1264-1274(2014)
Cited for: VARIANTS PFIC2 HIS-337; CYS-472; TRP-696; PRO-931; VAL-1131 AND ARG-1198; VARIANTS ALA-444 AND VAL-865; Functional analysis of the correlation between ABCB11 gene mutation and primary intrahepatic stone.
Gan L.; Pan S.; Cui J.; Bai J.; Jiang P.; He Y.;
Mol. Med. Report. 19:195-204(2019)
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.