Variant position: 316 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:
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 TPLQEQSKEVAIRIFQGCQF RSVEAVQEITEYAKSIPGFVN
Rhesus macaque TPLQEQSKEVAIRIFQGCQF RSVEAVQEITEYAKSIPGFVN
Mouse TPLQEQSKEVAIRIFQGCQF RSVEAVQEITEYAKNIPGFIN
Rat TPLQEQSKEVAIRIFQGCQF RSVEAVQEITEYAKNIPGFIN
Pig TPLQEQSKEVAIRIFQGCQF RSVEAVQEITEYAKNIPGFVN
Bovine SPLQEPSKEVAIRIFQGCQF RSVEAVQEITEYAKNIPGFVN
Rabbit TPLQEQSKEVAIRIFQGCQF RSVEAVQEITEYAKNIPGFVS
Xenopus laevis -PRAEQGGGDSNLPALSVAL RG--GVREITEFAKNIPGFVS
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
1 – 505 Peroxisome proliferator-activated receptor gamma
238 – 503 NR LBD
317 – 317 Synthetic agonist
214 – 504 Missing. In isoform 3.
305 – 329
Loss-of-function mutations in PPAR-gamma associated with human colon cancer.
Sarraf P.; Mueller E.; Smith W.M.; Wright H.M.; Kum J.B.; Aaltonen L.A.; de la Chapelle A.; Spiegelman B.M.; Eng C.;
Mol. Cell 3:799-804(1999)
Cited for: VARIANTS COLON CANCER PRO-314 AND HIS-316; VARIANT ALA-12;
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.