UniProtKB/Swiss-Prot O95342: Variant p.Arg299Lys

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

299 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 Arginine (R) to Lysine (K) at position 299 (R299K, p.Arg299Lys). 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 basic. 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
Other resources:

Links to websites of interest for the variant.

Variant rs2287617 [ dbSNP | Ensembl ]

Sequence information Variant position:

299 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:

VVADEVISSMRTVAAFGGEK R EVERYEKNLVFAQRWGIRKG 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                         VVADEVISSMRTVAAFGGEKREVERYEKNLVFAQRWGIRKG

Mouse                         SIADEVLSSIRTVAAFGGENKEVERYEKNLMFAQRWGIWKG

Rat                           SIADEVLSSIRTVAAFGGENKEVERYEKNLVFAQRWGIWKG

Rabbit                        SVADEVISSMRTVAAFGGEKKEVERYEKNLVFAQRWGIRKG

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	262 – 319	Cytoplasmic
Domain	62 – 385	ABC transmembrane type-1 1
Mutagenesis	1 – 441	Missing. Does not affect ATPase-coupled bile acid transport activity. Decreases protein stability.
Turn	294 – 308

Literature citations
Genetic variability, haplotype structures, and ethnic diversity of hepatic transporters MDR3 (ABCB4) and bile salt export pump (ABCB11).
Lang T.; Haberl M.; Jung D.; Drescher A.; Schlagenhaufer R.; Keil A.; Mornhinweg E.; Stieger B.; Kullak-Ublick G.A.; Kerb R.;
Drug Metab. Dispos. 34:1582-1599(2006)
Cited for: VARIANTS VAL-206; ALA-284; LYS-299; ALA-444; GLY-616; ALA-619; VAL-677; HIS-698; VAL-865 AND GLN-958; Functional analysis of the correlation between ABCB11 gene mutation and primary intrahepatic stone.
Gan L.; Pan S.; Cui J.; Bai J.; Jiang P.; He Y.;
Mol. Med. Report. 19:195-204(2019)
Cited for: VARIANTS LYS-299; ALA-444 AND VAL-865; CHARACTERIZATION OF VARIANT VAL-865; 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.