UniProtKB/SwissProt variant VAR

Variant information

Variant position:

268

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 Valine (V) at position 268 (A268V, p.Ala268Val).

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 hydrophobic (V)

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

Other resources:

Links to websites of interest for the variant.

Variant rs1042311 [ dbSNP | Ensembl ]

Sequence information

Variant position:

268

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

Protein sequence length:

468

The length of the canonical sequence.

Location on the sequence:

CMAEKTLVAKLVANGIQNKE A EVRIFHCCQCTSVETVTELT

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                         CMAEKTLVAKLVANGIQNKEAEVRIFHCCQCTSVETVTELT

                              CMAEKTLVAKLVANGIQNKEAEVRIFHCCQCTSVETVTELT

Mouse                         CMAEKTLVAKMVANGVEDKEAEVRFFHCCQCMSVETVTELT

Rat                           CMAEKTLVAKMVANGVENKEAEVRFFHCCQCMSVETVTELT

Xenopus laevis                CMAEKTLVAKLVANGIQNKEAEVRIFHCCQCTSVETVTELT

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 – 468	Peroxisome proliferator-activated receptor alpha
Domain	239 – 466	NR LBD
Binding site	280 – 280	Synthetic agonist
Alternative sequence	175 – 468	Missing. In isoform 2.
Helix	268 – 290

Literature citations

cDNA cloning, chromosomal mapping, and functional characterization of the human peroxisome proliferator activated receptor.
Sher T.; Yi H.F.; McBride O.W.; Gonzales F.J.;
Biochemistry 32:5598-5604(1993)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); FUNCTION; VARIANT VAL-268;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q07869: Variant p.Ala268Val