UniProtKB/Swiss-Prot Q9Y6L6: Variant p.Asn130Asp

• Variant information
• Sequence information
• Literature citations
• All

Variant information

Variant position: 130 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 Asparagine (N) to Aspartate (D) at position 130 (N130D, p.Asn130Asp). 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 polar (N) to medium size and acidic (D) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: 1 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 rs2306283 [ dbSNP | Ensembl ]

Sequence information

Variant position: 130 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 691 The length of the canonical sequence.
Location on the sequence: LTALPHFFMGYYRYSKETNI N SSENSTSTLSTCLINQILSL 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 – 691	Solute carrier organic anion transporter family member 1B1
Topological domain	120 – 168	Extracellular
Glycosylation	130 – 130	N-linked (GlcNAc...) asparagine
Glycosylation	134 – 134	N-linked (GlcNAc...) asparagine

Literature citations

A novel human hepatic organic anion transporting polypeptide (OATP2). Identification of a liver-specific human organic anion transporting polypeptide and identification of rat and human hydroxymethylglutaryl-CoA reductase inhibitor transporters.
Hsiang B.H.; Zhu Y.; Wang Z.; Wu Y.; Sasseville V.; Yang W.-P.; Kirchgessner T.G.;
J. Biol. Chem. 274:37161-37168(1999)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; FUNCTION; TISSUE SPECIFICITY; VARIANT ASP-130; TRANSPORTER ACTIVITY; BIOPHYSICOCHEMICAL PROPERTIES; Submission
SeattleSNPs variation discovery resource;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT ASP-130; The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANTS ASP-130 AND THR-155; Polymorphisms in OATP-C: identification of multiple allelic variants associated with altered transport activity among European- and African-Americans.
Tirona R.G.; Leake B.F.; Merino G.; Kim R.B.;
J. Biol. Chem. 276:35669-35675(2001)
Cited for: VARIANTS LEU-73; ALA-82; ASP-130; LYS-152; THR-155; GLY-156; ALA-174; ASN-241; THR-353; ASP-432; GLY-462; ALA-488; GLY-655 AND GLY-667; CHARACTERIZATION; A naturally occurring mutation in the SLC21A6 gene causing impaired membrane localization of the hepatocyte uptake transporter.
Michalski C.; Cui Y.; Nies A.T.; Nuessler A.K.; Neuhaus P.; Zanger U.M.; Klein K.; Eichelbaum M.; Keppler D.; Koenig J.;
J. Biol. Chem. 277:43058-43063(2002)
Cited for: CHARACTERIZATION OF VARIANTS ASP-130; THR-155 AND ARG-193; FUNCTION; SUBCELLULAR LOCATION; TRANSPORTER ACTIVITY; TISSUE SPECIFICITY; Genetic polymorphisms of human organic anion transporters OATP-C (SLC21A6) and OATP-B (SLC21A9): allele frequencies in the Japanese population and functional analysis.
Nozawa T.; Nakajima M.; Tamai I.; Noda K.; Nezu J.; Sai Y.; Tsuji A.; Yokoi T.;
J. Pharmacol. Exp. Ther. 302:804-813(2002)
Cited for: VARIANTS ASP-130; LYS-152; ALA-174 AND ASN-241;