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UniProtKB/Swiss-Prot Q92887: Variant p.Ile1173Phe

Canalicular multispecific organic anion transporter 1
Gene: ABCC2
Chromosomal location: 10q24
Variant information

Variant position:  1173
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 Isoleucine (I) to Phenylalanine (F) at position 1173 (I1173F, p.Ile1173Phe).
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 hydrophobic (I) to large size and aromatic (F)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  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

Involvement in disease:  Dubin-Johnson syndrome (DJS) [MIM:237500]: Autosomal recessive disorder characterized by conjugated hyperbilirubinemia, an increase in the urinary excretion of coproporphyrin isomer I, deposition of melanin-like pigment in hepatocytes, and prolonged retention of sulfobromophthalein, but otherwise normal liver function. {ECO:0000269|PubMed:10053008, ECO:0000269|PubMed:10464142, ECO:0000269|PubMed:11093739, ECO:0000269|PubMed:11266082, ECO:0000269|PubMed:11477083, ECO:0000269|PubMed:22290738, ECO:0000269|PubMed:25336012, ECO:0000269|PubMed:9425227}. 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 DJS; decreased expression and mislocation to the endoplasmic reticulum.
Any additional useful information about the variant.

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



Sequence information

Variant position:  1173
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  1545
The length of the canonical sequence.

Location on the sequence:   SVTRSPIYSHFSETVSGLPV  I RAFEHQQRFLKHNEVRIDTN
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 – 1545 Canalicular multispecific organic anion transporter 1
Topological domain 1141 – 1211 Cytoplasmic
Domain 979 – 1264 ABC transmembrane type-1 2


Literature citations

Identification and functional analysis of two novel mutations in the multidrug resistance protein 2 gene in Israeli patients with Dubin-Johnson syndrome.
Mor-Cohen R.; Zivelin A.; Rosenberg N.; Shani M.; Muallem S.; Seligsohn U.;
J. Biol. Chem. 276:36923-36930(2001)
Cited for: VARIANTS DJS HIS-1150 AND PHE-1173; VARIANTS ASN-281 AND ILE-417;

Functional characterization of protein variants of the human multidrug transporter ABCC2 by a novel targeted expression system in fibrosarcoma cells.
Arlanov R.; Porter A.; Strand D.; Brough R.; Karpova D.; Kerb R.; Wojnowski L.; Schwab M.; Lang T.;
Hum. Mutat. 33:750-762(2012)
Cited for: VARIANTS PHE-39; GLY-333; HIS-353; ILE-486; THR-670; SER-921; THR-1036; HIS-1174; LEU-1181; GLU-1188; LEU-1291 AND TYR-1515; CHARACTERIZATION OF VARIANTS DJS PHE-1173; CHARACTERIZATION OF VARIANTS GLY-333; HIS-353; ILE-486; SER-921; THR-1036; HIS-1174; LEU-1181; LYS-1244 AND LEU-1291;

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.