UniProtKB/SwissProt variant VAR

Variant information

Variant position:

203

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 Alanine (A) to Aspartate (D) at position 203 (A203D, p.Ala203Asp).

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 small size and hydrophobic (A) to medium size and acidic (D)

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

BLOSUM score:

-2

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 rs1042854 [ dbSNP | Ensembl ]

Sequence information

Variant position:

203

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

Protein sequence length:

285

The length of the canonical sequence.

Location on the sequence:

DFVSVRCAKRRGSTCVLAGM A TDFGNMPEQKGVIRAEHGPT

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                         DFVSVRCAKRRGSTCVLAGMATDFGNMPEQKGVIRAE---------------HGPT

Mouse                         DFVSVRCTKRRGSTCVLAGMATHFGEMPEQSGVIRAE----

Rat                           DFVSVRCTKRRGSTCVLAGMATHFGEMPEQSGVIRAE----

Pig                           DFVSVRCTKRRGSVCVLAGMATDFGEMPEQKGVIRAE----

Bovine                        DFVSVRCTKRRGSMCVLAGMATLYEEMPQQKGVIRAE----

Sheep                         DFVSVRCTKRRGSMCVLAGTATLYEEMPQQKGVIRAE----

Horse                         DFVSVRCAKRRGSTCVLAGMATQFEEMPEQKGVIRAE----

Chicken                       DFVSVRCSRRRGSTCVLAGMSTTHGAMPEQQGFIRAE----

Xenopus laevis                DFVSVRCSKRRGSTCILAGMSTRFGGMPEQKGFVRGE----

Zebrafish                     DFVNVRHAKRRGSTCFLAGMSTQHPGMPEQKGFVRAE----

Drosophila                    WYFTLRKQNAQRARMQVVHACVSPNTYPKEITIHNEDVRIN

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	64 – 285	Steroidogenic acute regulatory protein, mitochondrial
Domain	67 – 280	START
Modified residue	195 – 195	Phosphoserine; by PKA

Literature citations

Human steroidogenic acute regulatory protein: functional activity in COS-1 cells, tissue-specific expression, and mapping of the structural gene to 8p11.2 and a pseudogene to chromosome 13.
Sugawara T.; Holt J.A.; Driscoll D.; Strauss J.F. III; Lin D.; Miller W.L.; Patterson D.; Clancy K.P.; Hart I.M.; Clark B.J.; Stocco D.M.;
Proc. Natl. Acad. Sci. U.S.A. 92:4778-4782(1995)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT ASP-203; FUNCTION; CATALYTIC ACTIVITY;

Structure of the human steroidogenic acute regulatory protein (StAR) gene: StAR stimulates mitochondrial cholesterol 27-hydroxylase activity.
Sugawara T.; Lin D.; Holt J.A.; Martin K.O.; Javitt N.B.; Miller W.L.; Strauss J.F. III;
Biochemistry 34:12506-12512(1995)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT ASP-203;

A novel frameshift mutation 840delA and a novel polymorphism D203A in the steroidogenic acute regulatory protein gene in a Japanese patient with congenital lipoid adrenal hyperplasia.
Katsumata N.; Tanae A.; Shinagawa T.; Nagashima-Miyokawa A.; Shimizu M.; Yasunaga T.; Tanaka T.; Hibi I.;
Hum. Mutat. Suppl. 1:S304-S307(1998)
Cited for: VARIANT ASP-203;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P49675: Variant p.Ala203Asp