UniProtKB/Swiss-Prot P08183: Variant p.Ser893Ala

• Variant information
• Sequence information
• Literature citations
• All

Variant information

Variant position: 893 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: 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: From Serine (S) to Alanine (A) at position 893 (S893A, p.Ser893Ala). 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 small size and polar (S) to small size and hydrophobic (A) 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
Polymorphism: Genetic variation in ABCB1 may play a role in patients who do not respond to drug treatment. Additional information on the polymorphism described.
Variant description: Risk factor for IBD13; has decreased enzyme activity. Any additional useful information about the variant.
Other resources: Links to websites of interest for the variant.

• Variant rs2032582 [ dbSNP | Ensembl ]

Sequence information

Variant position: 893 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1280 The length of the canonical sequence.
Location on the sequence: VVEMKMLSGQALKDKKELEG S GKIATEAIENFRTVVSLTQE 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.

Type	Positions	Description
Chain	1 – 1280	ATP-dependent translocase ABCB1
Topological domain	875 – 934	Cytoplasmic
Domain	711 – 1000	ABC transmembrane type-1 2
Helix	887 – 902

Literature citations

Internal duplication and homology with bacterial transport proteins in the mdr1 (P-glycoprotein) gene from multidrug-resistant human cells.
Chen C.-J.; Chin J.E.; Ueda K.; Clark D.P.; Pastan I.; Gottesman M.M.; Roninson I.B.;
Cell 47:381-389(1986)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANTS VAL-185 AND ALA-893; POLYMORPHISM; Genomic organization of the human multidrug resistance (MDR1) gene and origin of P-glycoproteins.
Chen C.-J.; Clark D.P.; Ueda K.; Pastan I.; Gottesman M.M.; Roninson I.B.;
J. Biol. Chem. 265:506-514(1990)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT ALA-893; Multidrug-resistant human sarcoma cells with a mutant P-glycoprotein, altered phenotype, and resistance to cyclosporins.
Chen G.; Duran G.E.; Steger K.A.; Lacayo N.J.; Jaffrezou J.P.; Dumontet C.; Sikic B.I.;
J. Biol. Chem. 272:5974-5982(1997)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANTS VAL-185 AND ALA-893; POLYMORPHISM; FUNCTION; Submission
NIEHS SNPs program;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS LEU-17; ASP-21; ASN-400; LYS-566; CYS-593; VAL-836; ALA-893; ALA-1051; THR-1141 AND ILE-1251; Genetic polymorphism in MDR-1: a tool for examining allelic expression in normal cells, unselected and drug-selected cell lines, and human tumors.
Mickley L.A.; Lee J.-S.; Weng Z.; Zhan Z.; Alvarez M.; Wilson W.; Bates S.E.; Fojo T.;
Blood 91:1749-1756(1998)
Cited for: VARIANTS ALA-893 AND THR-999; Frequency of single nucleotide polymorphisms in the P-glycoprotein drug transporter MDR1 gene in white subjects.
Cascorbi I.; Gerloff T.; Johne A.; Meisel C.; Hoffmeyer S.; Schwab M.; Schaeffeler E.; Eichelbaum M.; Brinkmann U.; Roots I.;
Clin. Pharmacol. Ther. 69:169-174(2001)
Cited for: VARIANTS ASP-21; ASN-400; ALA-893; THR-893 AND PRO-1107; Three hundred twenty-six genetic variations in genes encoding nine members of ATP-binding cassette, subfamily B (ABCB/MDR/TAP), in the Japanese population.
Saito S.; Iida A.; Sekine A.; Miura Y.; Ogawa C.; Kawauchi S.; Higuchi S.; Nakamura Y.;
J. Hum. Genet. 47:38-50(2002)
Cited for: VARIANTS ALA-893 AND THR-893; MDR1 Ala893 polymorphism is associated with inflammatory bowel disease.
Brant S.R.; Panhuysen C.I.M.; Nicolae D.; Reddy D.M.; Bonen D.K.; Karaliukas R.; Zhang L.; Swanson E.; Datta L.W.; Moran T.; Ravenhill G.; Duerr R.H.; Achkar J.-P.; Karban A.S.; Cho J.H.;
Am. J. Hum. Genet. 73:1282-1292(2003)
Cited for: VARIANTS ALA-893 AND THR-893; ASSOCIATION WITH SUSCEPTIBILITY TO IBD13;