UniProtKB/Swiss-Prot P21439: Variant p.Leu1082Gln

• Variant information
• Sequence information
• Literature citations
• All

Variant information

Variant position: 1082 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 Leucine (L) to Glutamine (Q) at position 1082 (L1082Q, p.Leu1082Gln). 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 (L) to medium size and polar (Q) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: -2 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
Variant description: In a heterozygous patient with amoxicillin/clavulanic acid-induced cholestasis. Any additional useful information about the variant.
Other resources: Links to websites of interest for the variant.

• Variant rs1214110864 [ dbSNP | Ensembl ]

Sequence information

Variant position: 1082 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1286 The length of the canonical sequence.
Location on the sequence: GQTLALVGSSGCGKSTVVQL L ERFYDPLAGTVFVDFGFQLL 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 – 1286	Phosphatidylcholine translocator ABCB4
Topological domain	995 – 1286	Cytoplasmic
Domain	1034 – 1279	ABC transporter 2
Mutagenesis	1075 – 1075	K -> M. Inhibits efflux activity for PC and cholesterol, but does not alter glycosylation and surface expression in the presence of taurocholate.
Helix	1075 – 1083

Literature citations

Mutations and polymorphisms in the bile salt export pump and the multidrug resistance protein 3 associated with drug-induced liver injury.
Lang C.; Meier Y.; Stieger B.; Beuers U.; Lang T.; Kerb R.; Kullak-Ublick G.A.; Meier P.J.; Pauli-Magnus C.;
Pharmacogenet. Genomics 17:47-60(2007)
Cited for: VARIANTS ALA-175; GLN-590; GLY-652; LEU-764 AND GLN-1082;