UniProtKB/Swiss-Prot O95342: Variant p.Arg696Trp

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

696 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

US 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 Tryptophan (W) at position 696 (R696W, p.Arg696Trp). 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 large size and aromatic (W) 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:

In PFIC2; uncertain significance. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs376216286 [ dbSNP | Ensembl ]

Sequence information Variant position:

696 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:

DMLARTFSRGSYQDSLRASI R QRSKSQLSYLVHEPPLAVVD 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                         DMLARTFSRGSYQDSLRASIRQRSKSQLSYLVHEPPLAVVD

Mouse                         DTPERTFSRGSYQDSLRASIRQRSKSQLSHLSHEPPLAIGD

Rat                           GTLERTFSRGSYRDSLRASIRQRSKSQLSLLTHDPPLAVAD

Rabbit                        DIPEKTFSRGNYQDSLRASLRQRSKSQLSYLAHEPPMAVED

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	375 – 755	Cytoplasmic
Modified residue	690 – 690	Phosphoserine
Modified residue	701 – 701	Phosphoserine
Modified residue	704 – 704	Phosphoserine
Turn	688 – 700

Literature citations
Diagnosis of ABCB11 gene mutations in children with intrahepatic cholestasis using high resolution melting analysis and direct sequencing.
Hu G.; He P.; Liu Z.; Chen Q.; Zheng B.; Zhang Q.;
Mol. Med. Report. 10:1264-1274(2014)
Cited for: VARIANTS PFIC2 HIS-337; CYS-472; TRP-696; PRO-931; VAL-1131 AND ARG-1198; VARIANTS ALA-444 AND VAL-865;

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.