UniProtKB/Swiss-Prot O95342: Variant p.Ser56Leu

Bile salt export pump
Gene: ABCB11
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Variant information Variant position:

56 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 Leucine (L) at position 56 (S56L, p.Ser56Leu). 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 medium size and hydrophobic (L) 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:

Does not affect taurocholate transport activity; does not affect cell surface protein expression. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs11568361 [ dbSNP | Ensembl ]

Sequence information Variant position:

56 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

1321 The length of the canonical sequence.
Location on the sequence:

DEKKGDGVRVGFFQLFRFSS S TDIWLMFVGSLCAFLHGIAQ 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.
Residue conservation:

The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         DEKKGDGVRVGFFQLFRFSSSTDIWLMFVGSLCAFLHGIAQ

Mouse                         DKKKGEGARVGFFELFRFSSSKDNWLMFMGSVCALLHGMAQ

Rat                           DKMKEGDIRVGFFELFRFSSSKDIWLMLMGGVCALLHGMAQ

Rabbit                        DKKKSDSVRIGFFQLFRFSSWTDIWLMCMGSLCACIHGIAQ

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 – 1321	Bile salt export pump
Topological domain	1 – 62	Cytoplasmic
Mutagenesis	1 – 441	Missing. Does not affect ATPase-coupled bile acid transport activity. Decreases protein stability.
Helix	56 – 99

Literature citations
Polymorphic variants in the human bile salt export pump (BSEP; ABCB11): functional characterization and interindividual variability.
Ho R.H.; Leake B.F.; Kilkenny D.M.; Meyer Zu Schwabedissen H.E.; Glaeser H.; Kroetz D.L.; Kim R.B.;
Pharmacogenet. Genomics 20:45-57(2010)
Cited for: VARIANTS LEU-56; VAL-206; ALA-444; HIS-558; SER-591; GLN-592; VAL-677 AND LYS-1186; CHARACTERIZATION OF VARIANTS LEU-56; VAL-206; ALA-444; HIS-558; SER-591; GLN-592; VAL-677 AND LYS-1186; VARIANT PFIC2 GLY-297; CHARACTERIZATION OF VARIANTS PFIC2 GLY-297; ARG-982 AND CYS-1153; FUNCTION; CATALYTIC ACTIVITY; SUBCELLULAR LOCATION;

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.