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UniProtKB/Swiss-Prot P37231: Variant p.Phe388Leu

Peroxisome proliferator-activated receptor gamma
Gene: PPARG
Variant information

Variant position:  388
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 Phenylalanine (F) to Leucine (L) at position 388 (F388L, p.Phe388Leu).
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 aromatic (F) to medium size and hydrophobic (L)
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

Involvement in disease:  Lipodystrophy, familial partial, 3 (FPLD3) [MIM:604367]: A form of lipodystrophy characterized by marked loss of subcutaneous fat from the extremities. Facial adipose tissue may be increased, decreased or normal. Affected individuals show an increased preponderance of insulin resistance, diabetes mellitus and dyslipidemia. {ECO:0000269|PubMed:11788685, ECO:0000269|PubMed:12453919}. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In FPLD3.
Any additional useful information about the variant.

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



Sequence information

Variant position:  388
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:   LISEGQGFMTREFLKSLRKP  F GDFMEPKFEFAVKFNALELD
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                         LISEGQGFMTREFLKSLRKPFGDFMEPKFEFAVKFNALELD

                              LISEGQGFMTREFLKSLRKPFGDFMEPKFEFAVKFNALELD

Rhesus macaque                LISEGQGFMTREFLKSLRKPFGDFMEPKFEFAVKFNALELD

Mouse                         LISEGQGFMTREFLKNLRKPFGDFMEPKFEFAVKFNALELD

Rat                           LISEGQGFMTREFLKSLRKPFGDFMEPKFEFAVKFNALELD

Pig                           LISEGQGFMTREFLKSLRKPFGDFMEPKFEFAVKFNALELD

Bovine                        LISEGQGFMTREFLKSLRKPFGDFMEPKFEFAVKFNALELD

Rabbit                        LISEGQGFMTREFLKSLRKPFGDFMEPKFEFAVKFNALELD

Xenopus laevis                LVAEGQGFMTREFLKSLRKPFSDFMEPKFEFAIRFNSLELD

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
Alternative sequence 214 – 504 Missing. In isoform 3.
Helix 388 – 390


Literature citations

PPARG F388L, a transactivation-deficient mutant, in familial partial lipodystrophy.
Hegele R.A.; Cao H.; Frankowski C.; Mathews S.T.; Leff T.;
Diabetes 51:3586-3590(2002)
Cited for: VARIANT FPLD3 LEU-388;

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.