Sequence information
Variant position: 425 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:
LELDDSDLAIFIAVIILSGD
R PGLLNVKPIEDIQDNLLQAL
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 LELDDSDLAIFIAVIILSGDR PGLLNVKPIEDIQDNLLQAL
Rhesus macaque LELDDSDLAIFIAVIILSGDR PGLLNVKPIEDIQDNLLQAL
Mouse LELDDSDLAIFIAVIILSGDR PGLLNVKPIEDIQDNLLQAL
Rat LELDDSDLAIFIAVIILSGDR PGLLNVKPIEDIQDNLLQAL
Pig LELDDSDLAIFIAVIILSGDR PGLLNVKPIEDIQDNLLQAL
Bovine LELDDSDLAIFIAVIILSGDR PGLLNVKPIEDIQDNLLQAL
Rabbit LELDDSDLAIFIAVIILSGDR PGLLNVKPIEDIQDNLLQAL
Xenopus laevis LELDDSDLAIFVAVIILSGDR PGLLNVKPIEDIQDSLLQAL
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.
Beta strand
423 – 425
Literature citations
A novel heterozygous mutation in peroxisome proliferator-activated receptor-gamma gene in a patient with familial partial lipodystrophy.
Agarwal A.K.; Garg A.;
J. Clin. Endocrinol. Metab. 87:408-411(2002)
Cited for: VARIANT FPLD3 CYS-425;
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.