Home  |  Contact

UniProtKB/Swiss-Prot P37231: Variant p.Val318Met

Peroxisome proliferator-activated receptor gamma
Gene: PPARG
Chromosomal location: 3p25
Variant information

Variant position:  318
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Polymorphism
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 Valine (V) to Methionine (M) at position 318 (V318M, p.Val318Met).
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:  Similar physico-chemical property. Both residues are medium size and hydrophobic.
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

Polymorphism:  Genetic variations in PPARG define the body mass index quantitative trait locus 1 (BMIQ1) [MIM:606641]. The body max index (BMI) reflects the amount of fat, lean mass, and body build.Genetic variations in PPARG influence the carotid intimal medial thickness (CIMT) [MIM:609338]. CIMT is a measure of atherosclerosis that is independently associated with traditional atherosclerotic cardiovascular disease risk factors and coronary atherosclerotic burden. 35 to 45% of the variability in multivariable-adjusted CIMT is explained by genetic factors. -
Additional information on the polymorphism described.

Variant description:  In diabetes.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  318
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  505
The length of the canonical sequence.

Location on the sequence:   LQEQSKEVAIRIFQGCQFRS  V EAVQEITEYAKSIPGFVNLD
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                         LQEQSKEVAIRIFQGCQFRSVEAVQEITEYAKSIPGFVNLD

                              LQEQSKEVAIRIFQGCQFRSVEAVQEITEYAKSIPGFVNLD

Rhesus macaque                LQEQSKEVAIRIFQGCQFRSVEAVQEITEYAKSIPGFVNLD

Mouse                         LQEQSKEVAIRIFQGCQFRSVEAVQEITEYAKNIPGFINLD

Rat                           LQEQSKEVAIRIFQGCQFRSVEAVQEITEYAKNIPGFINLD

Pig                           LQEQSKEVAIRIFQGCQFRSVEAVQEITEYAKNIPGFVNLD

Bovine                        LQEPSKEVAIRIFQGCQFRSVEAVQEITEYAKNIPGFVNLD

Rabbit                        LQEQSKEVAIRIFQGCQFRSVEAVQEITEYAKNIPGFVSLD

Xenopus laevis                RAEQGGGDSNLPALSVALRG--GVREITEFAKNIPGFVSLD

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.

TypePositionsDescription
Chain 1 – 505 Peroxisome proliferator-activated receptor gamma
Domain 238 – 503 NR LBD
Binding site 317 – 317 Synthetic agonist
Alternative sequence 214 – 504 Missing. In isoform 3.
Helix 305 – 329


Literature citations

Dominant negative mutations in human PPAR-gamma associated with severe insulin resistance, diabetes mellitus and hypertension.
Barroso I.; Gurnell M.; Crowley V.E.F.; Agostini M.; Schwabel J.W.; Soos M.A.; Masien G.L.; Williams T.D.M.; Lewis H.; Schafer A.J.; Chatterjee V.K.K.; O'Rahilly S.;
Nature 402:880-883(1999)
Cited for: VARIANTS DIABETES MET-318 AND LEU-495;

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.