UniProtKB/SwissProt variant VAR

Variant information

Variant position:

261

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

Type of variant:

Disease [Disclaimer]

The variants are classified into three categories: Disease, Polymorphism and Unclassified.

Disease: Variants implicated in disease according to literature reports.
Polymorphism: Variants not reported to be implicated in disease.
Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:

From Arginine (R) to Cysteine (C) at position 261 (R261C, p.Arg261Cys).

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:

In CBAS2; decreases protein level; accumulates in inclusion bodies; lacks of 5-beta-reductase activity.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs267606650 [ dbSNP | Ensembl ]

Sequence information

Variant position:

261

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

Protein sequence length:

326

The length of the canonical sequence.

Location on the sequence:

DALLNSLGKRYNKTAAQIVL R FNIQRGVVVIPKSFNLERIK

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                         DALLNSLGKRYNKTAAQIVLRFNIQRGVVVIPKSFNLERIK

Mouse                         DELLTSLGKKYNKTQAQIVLRFNIQRGIVVIPKSFTPERIK

Rat                           DELLTSLGKKYNKTQAQIVLRFDIQRGLVVIPKSTTPERIK

Rabbit                        DTLLNSLGKKYKKTAAQIVLRFNVQRGVVVIPKSFNPERIK

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 – 326	Aldo-keto reductase family 1 member D1
Helix	255 – 265

Literature citations

Characterization of disease-related 5beta-reductase (AKR1D1) mutations reveals their potential to cause bile acid deficiency.
Drury J.E.; Mindnich R.; Penning T.M.;
J. Biol. Chem. 285:24529-24537(2010)
Cited for: CATALYTIC ACTIVITY; CHARACTERIZATION OF VARIANTS CBAS2 PHE-106; ARG-133; LEU-198; GLU-223 AND CYS-261; BIOPHYSICOCHEMICAL PROPERTIES;

SRD5B1 (AKR1D1) gene analysis in delta(4)-3-oxosteroid 5beta-reductase deficiency: evidence for primary genetic defect.
Gonzales E.; Cresteil D.; Baussan C.; Dabadie A.; Gerhardt M.F.; Jacquemin E.;
J. Hepatol. 40:716-718(2004)
Cited for: VARIANTS CBAS2 ARG-133 AND CYS-261;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P51857: Variant p.Arg261Cys