UniProtKB/Swiss-Prot Q14973: Variant p.Arg21Cys

Hepatic sodium/bile acid cotransporter
Gene: SLC10A1
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Variant information Variant position:

21 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 Cysteine (C) at position 21 (R21C, p.Arg21Cys). 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 large size and basic (R) to medium size and polar (C) 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
Variant description:

Decreased function in taurocholate transport. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs200758433 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

MEAHNASAPFNFTLPPNFGK R PTDLALSVILVFMLFFIMLS 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                         MEAHNASAPFNFTLPPNFGKRPTDLALSVILVFMLFFIMLS

Mouse                         MEAHNVSAPFNFSLPPGFGHRATDTALSVILVVMLLLIMLS

Rat                           MEVHNVSAPFNFSLPPGFGHRATDKALSIILVLMLLLIMLS

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 – 349	Hepatic sodium/bile acid cotransporter
Topological domain	1 – 22	Extracellular
Glycosylation	5 – 5	N-linked (GlcNAc...) asparagine
Glycosylation	11 – 11	N-linked (GlcNAc...) asparagine
Mutagenesis	20 – 20	K -> W. Disrupts interaction with HBV myristoylated pre-S1 peptide.
Mutagenesis	27 – 27	L -> W. Disrupts interaction with HBV myristoylated pre-S1 peptide. Abolishes pre-S1-mediated attactment to HBV and the transport of bile acid; when associated with W-31. Abolishes pre-S1-mediated attactment to HBV and the transport of bile acid; when associated with W-31 and W-35.
Mutagenesis	31 – 31	L -> W. Abolishes pre-S1-mediated attactment to HBV and the transport of bile acid; when associated with W-27. Abolishes pre-S1-mediated attactment to HBV and the transport of bile acid; when associated with W-35. Abolishes pre-S1-mediated attactment to HBV and the transport of bile acid; when associated with W-27 and W-35.
Mutagenesis	35 – 35	L -> W. Abolishes pre-S1-mediated attactment to HBV and the transport of bile acid; when associated with W-31. Abolishes pre-S1-mediated attactment to HBV and the transport of bile acid; when associated with W-27 and W-31.
Beta strand	18 – 21

Literature citations
In vitro functional characterization and in silico prediction of rare genetic variation in the bile acid and drug transporter, Na+-taurocholate cotransporting polypeptide (NTCP, SLC10A1).
Russell L.E.; Zhou Y.; Lauschke V.M.; Kim R.B.;
Mol. Pharm. 17:1170-1181(2020)
Cited for: CHARACTERIZATION OF VARIANTS CYS-21; THR-39; LEU-41; THR-64; THR-73; THR-88; PRO-138; MET-159; GLN-180; GLU-190; THR-232; LEU-234; PHE-241; TRP-249; CYS-252; SER-252; SER-258; THR-279 AND GLU-293;

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.