UniProtKB/SwissProt variant VAR

Variant information

Variant position:

1168

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 Proline (P) to Serine (S) at position 1168 (P1168S, p.Pro1168Ser).

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 (P) to small size and polar (S)

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

Variant description:

In GBD1; reduced phosphatidylcholine transporter activity; does not alter plasma membrane location.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs121918442 [ dbSNP | Ensembl ]

Sequence information

Variant position:

1168

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

Protein sequence length:

1286

The length of the canonical sequence.

Location on the sequence:

QDEIVSAAKAANIHPFIETL P HKYETRVGDKGTQLSGGQKQ

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 – 1286	Phosphatidylcholine translocator ABCB4
Topological domain	995 – 1286	Cytoplasmic
Domain	1034 – 1279	ABC transporter 2
Beta strand	1167 – 1171

Literature citations

MDR3 gene defect in adults with symptomatic intrahepatic and gallbladder cholesterol cholelithiasis.
Rosmorduc O.; Hermelin B.; Poupon R.;
Gastroenterology 120:1459-1467(2001)
Cited for: VARIANTS GBD1 PHE-320 AND SER-1168; VARIANT ALA-175;

ABCB4 gene mutation-associated cholelithiasis in adults.
Rosmorduc O.; Hermelin B.; Boelle P.Y.; Parc R.; Taboury J.; Poupon R.;
Gastroenterology 125:452-459(2003)
Cited for: VARIANTS GBD1 ILE-165; THR-301; PHE-320; ASP-528; GLN-591; GLN-788 AND SER-1168; VARIANTS ALA-175; GLN-590; GLY-652; SER-742 AND THR-934;

Comparison of in silico prediction and experimental assessment of ABCB4 variants identified in patients with biliary diseases.
Khabou B.; Durand-Schneider A.M.; Delaunay J.L.; Ait-Slimane T.; Barbu V.; Fakhfakh F.; Housset C.; Maurice M.;
Int. J. Biochem. Cell Biol. 89:101-109(2017)
Cited for: CHARACTERIZATION OF VARIANTS GBD1 ASP-528 AND SER-1168;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P21439: Variant p.Pro1168Ser