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 LISEGQGFMTREFLKSLRKPF GDFMEPKFEFAVKFNALELD
Rhesus macaque LISEGQGFMTREFLKSLRKPF GDFMEPKFEFAVKFNALELD
Mouse LISEGQGFMTREFLKNLRKPF GDFMEPKFEFAVKFNALELD
Rat LISEGQGFMTREFLKSLRKPF GDFMEPKFEFAVKFNALELD
Pig LISEGQGFMTREFLKSLRKPF GDFMEPKFEFAVKFNALELD
Bovine LISEGQGFMTREFLKSLRKPF GDFMEPKFEFAVKFNALELD
Rabbit LISEGQGFMTREFLKSLRKPF GDFMEPKFEFAVKFNALELD
Xenopus laevis LVAEGQGFMTREFLKSLRKPF SDFMEPKFEFAIRFNSLELD
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 – 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.