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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P37231: Variant p.Pro40Ala

Peroxisome proliferator-activated receptor gamma
Gene: PPARG
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Variant information Variant position: help 40
Type of variant: help LB/B
Residue change: help From Proline (P) to Alanine (A) at position 40 (P40A, p.Pro40Ala).
Physico-chemical properties: help Change from medium size and hydrophobic (P) to small size and hydrophobic (A)
BLOSUM score: help -1
Polymorphism: help 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. -
Other resources: help


Sequence information Variant position: help 40
Protein sequence length: help 505
Location on the sequence: help TLSANISQEMTMVDTEMPFW P TNFGISSVDLSVMEDHSHSF
Residue conservation: help 
Human                         TLSANISQEMTMVDTEMPFWPT-NFGISSVDLSVMEDHSHSF

                              TLSASTSQETTMVDTEMPFWPT-NFGISSVDLSVMDDHSHS

Rhesus macaque                TLSANISQEITMVDTEMPFWPT-NFGISSVDLSVMDDHSHS

Mouse                         ALPMSTSQEITMVDTEMPFWPT-NFGISSVDLSVMEDHSHS

Rat                           ALPMSTSQEITMVDTEMPFWPT-NFGISSVDLSVMDDHSHS

Pig                           TLSANISQEVTMVDTEMPFWPT-NFGISSVDLSVMDDHSHS

Bovine                        TVSARTSQEITMVDTEMPFWPT-NFGISSVDLSMMDDHSHA

Rabbit                        -----------MVDTEMPFWPT-NFGIGSVDLSVMDDHSHS

Xenopus laevis                -----------MVDTEMPFWSNLNFGMNSMDMSALEDHCQP
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 505 Peroxisome proliferator-activated receptor gamma



Literature citations
No reference for the current variant in UniProtKB/Swiss-Prot.
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.