UniProtKB/Swiss-Prot O95342: Variant p.Gly1004Asp

Bile salt export pump
Gene: ABCB11
Chromosomal location: 2q24
Variant information

Variant position:  1004
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 have been found in patients and disease-association is reported in literature. However, this classification is not a definitive assessment of variant pathogenicity.
  • Polymorphism: No disease-association has been reported.
  • Unclassified: Variants have been found in patients but disease-association remains unclear.

Residue change:  From Glycine (G) to Aspartate (D) at position 1004 (G1004D, p.Gly1004Asp).
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 glycine (G) to medium size and acidic (D)
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

Involvement in disease:  Cholestasis, progressive familial intrahepatic, 2 (PFIC2) [MIM:601847]: A disorder characterized by early onset of cholestasis that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood. {ECO:0000269|PubMed:10579978, ECO:0000269|PubMed:11815775, ECO:0000269|PubMed:9806540}. 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 PFIC2.
Any additional useful information about the variant.



Sequence information

Variant position:  1004
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  1321
The length of the canonical sequence.

Location on the sequence:   CFAFAQCIMFIANSASYRYG  G YLISNEGLHFSYVFRVISAV
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: 
The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         CFAFAQCIMFIANSASYRYGGYLISNEGLHFSYVFRVISAV

Mouse                         CYAFSQGISFLANSAAYRYGGYLIVYEDLNFSYVFRVVSSI

Rat                           CFAFSQGIAFLANSAAYRYGGYLIAYEGLGFSHVFRVVSSV

Rabbit                        CFGFSQCITFIANSASYRYGGYLISNEGLHFSYVFRVISAV

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 – 1321 Bile salt export pump
Topological domain 1001 – 1011 Extracellular
Domain 755 – 1043 ABC transmembrane type-1 2


Literature citations

FIC1 and BSEP defects in Taiwanese patients with chronic intrahepatic cholestasis with low gamma-glutamyltranspeptidase levels.
Chen H.-L.; Chang P.-S.; Hsu H.-C.; Ni Y.-H.; Hsu H.-Y.; Lee J.-H.; Jeng Y.-M.; Shau W.-Y.; Chang M.-H.;
J. Pediatr. 140:119-124(2002)
Cited for: VARIANTS PFIC2 LEU-284 AND ASP-1004;

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.