UniProtKB/Swiss-Prot P08183: Variant p.Gly185Val

• Variant information
• Sequence information
• Literature citations
• All

Variant information

Variant position: 185 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 Glycine (G) to Valine (V) at position 185 (G185V, p.Gly185Val). 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 hydrophobic (V) 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
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: In a colchicine-selected multidrug-resistant cell line; confers increased resistance to colchicine. Any additional useful information about the variant.
Other resources: Links to websites of interest for the variant.

• Variant rs1128501 [ dbSNP | Ensembl ]

Sequence information

Variant position: 185 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: VHDVGELNTRLTDDVSKINE G IGDKIGMFFQSMATFFTGFI 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	138 – 186	Cytoplasmic
Domain	51 – 357	ABC transmembrane type-1 1
Helix	168 – 186

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; 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; An altered pattern of cross-resistance in multidrug-resistant human cells results from spontaneous mutations in the mdr1 (P-glycoprotein) gene.
Choi K.H.; Chen C.-J.; Kriegler M.; Roninson I.B.;
Cell 53:519-529(1988)
Cited for: VARIANT VAL-185; POLYMORPHISM; FUNCTION;