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UniProtKB/Swiss-Prot Q92887: Variant p.Tyr39Phe

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

Variant position:  39
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Polymorphism
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 Tyrosine (Y) to Phenylalanine (F) at position 39 (Y39F, p.Tyr39Phe).
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:  Similar physico-chemical property. Both residues are large size and aromatic.
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  3
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

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



Sequence information

Variant position:  39
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:   PEADLPLCFEQTVLVWIPLG  Y LWLLAPWQLLHVYKSRTKRS
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
Transmembrane 28 – 48 Helical; Name=1


Literature citations

A human canalicular multispecific organic anion transporter (cMOAT) gene is overexpressed in cisplatin-resistant human cancer cell lines with decreased drug accumulation.
Taniguchi K.; Wada M.; Kohno K.; Nakamura T.; Kawabe T.; Kawakami M.; Kagotani K.; Okumura K.; Akiyama S.; Kuwano M.;
Cancer Res. 56:4124-4129(1996)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT PHE-39;

Submission
Kool M.; de Haas M.; Ponne N.J.; Paulusma C.C.; Oude-Elferink R.P.J.; Baas F.; Borst P.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANTS PHE-39; GLU-1188 AND TYR-1515;

cDNA cloning of the hepatocyte canalicular isoform of the multidrug resistance protein, cMrp, reveals a novel conjugate export pump deficient in hyperbilirubinemic mutant rats.
Buechler M.; Koenig J.; Brom M.; Kartenbeck J.; Spring H.; Horie T.; Keppler D.;
J. Biol. Chem. 271:15091-15098(1996)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT PHE-39;

Exon-intron organization of the human multidrug-resistance protein 2 (MRP2) gene mutated in Dubin-Johnson syndrome.
Tsujii H.; Koenig J.; Rost D.; Stoeckel B.; Leuschner U.; Keppler D.;
Gastroenterology 117:653-660(1999)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS PHE-39 AND DJS 1392-ARG-MET-1393 DEL;

Submission
Mural R.J.; Istrail S.; Sutton G.G.; Florea L.; Halpern A.L.; Mobarry C.M.; Lippert R.; Walenz B.; Shatkay H.; Dew I.; Miller J.R.; Flanigan M.J.; Edwards N.J.; Bolanos R.; Fasulo D.; Halldorsson B.V.; Hannenhalli S.; Turner R.; Yooseph S.; Lu F.; Nusskern D.R.; Shue B.C.; Zheng X.H.; Zhong F.; Delcher A.L.; Huson D.H.; Kravitz S.A.; Mouchard L.; Reinert K.; Remington K.A.; Clark A.G.; Waterman M.S.; Eichler E.E.; Adams M.D.; Hunkapiller M.W.; Myers E.W.; Venter J.C.;
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]; VARIANT PHE-39;

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANT PHE-39;

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.