UniProtKB/SwissProt variant VAR

Variant information

Variant position:

1173

The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:

LP/P [Disclaimer]

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 Isoleucine (I) to Phenylalanine (F) at position 1173 (I1173F, p.Ile1173Phe).

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 (I) to large size and aromatic (F)

The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:

0

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 DJS; decreased expression and mislocation to the endoplasmic reticulum.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs72558201 [ dbSNP | Ensembl ]

Sequence information

Variant position:

1173

The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:

1545

The length of the canonical sequence.

Location on the sequence:

SVTRSPIYSHFSETVSGLPV I RAFEHQQRFLKHNEVRIDTN

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 – 1545	ATP-binding cassette sub-family C member 2
Topological domain	1141 – 1211	Cytoplasmic
Domain	979 – 1264	ABC transmembrane type-1 2

Literature citations

Identification and functional analysis of two novel mutations in the multidrug resistance protein 2 gene in Israeli patients with Dubin-Johnson syndrome.
Mor-Cohen R.; Zivelin A.; Rosenberg N.; Shani M.; Muallem S.; Seligsohn U.;
J. Biol. Chem. 276:36923-36930(2001)
Cited for: VARIANTS DJS HIS-1150 AND PHE-1173; VARIANTS ASN-281 AND ILE-417;

Functional characterization of protein variants of the human multidrug transporter ABCC2 by a novel targeted expression system in fibrosarcoma cells.
Arlanov R.; Porter A.; Strand D.; Brough R.; Karpova D.; Kerb R.; Wojnowski L.; Schwab M.; Lang T.;
Hum. Mutat. 33:750-762(2012)
Cited for: VARIANTS PHE-39; GLY-333; HIS-353; ILE-486; THR-670; SER-921; THR-1036; HIS-1174; LEU-1181; GLU-1188; LEU-1291 AND TYR-1515; CHARACTERIZATION OF VARIANTS DJS PHE-1173; CHARACTERIZATION OF VARIANTS GLY-333; HIS-353; ILE-486; SER-921; THR-1036; HIS-1174; LEU-1181; LYS-1244 AND LEU-1291;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q92887: Variant p.Ile1173Phe