Gene Locus : human-LPL
Mode of mutation : Natural mutant
Disease : Hyperlipoproteinemia TypeI
Summary :
AAA Change :
Allelic Variant :
Risk Factor :
Inhibitor :
Structure :
Disease by interaction :
Interact Gene Locus :
Xenobiotic sensitivity :
Modification :
Torpedo_number : No torpedo number
Kinetic Parameter : No kinetic parameter
News : No news
Comment :
p.V227A (Val227Ala) c.680T > C (Val200Ala V200A in the mature protein which do not count signal peptide. exon 5). compound heterozygote c.680T > C (exon 5\; p.V227A (p.V200A) and c.1139+1G > A (intron 7 splice site)
| Title : Deciphering the role of V200A and N291S mutations leading to LPL deficiency - Botta_2019_Atherosclerosis_282_45 |
| Author(s) : Botta M , Maurer E , Ruscica M , Romeo S , Stulnig TM , Pingitore P |
| Ref : Atherosclerosis , 282 :45 , 2019 |
| Abstract : Botta_2019_Atherosclerosis_282_45 |
| ESTHER : Botta_2019_Atherosclerosis_282_45 |
| PubMedSearch : Botta_2019_Atherosclerosis_282_45 |
| PubMedID: 30685441 |
| Gene_locus related to this paper: human-LPL |
| Title : Mutations in Japanese subjects with primary hyperlipidemia--results from the Research Committee of the Ministry of Health and Welfare of Japan since 1996 - Maruyama_2004_J.Atheroscler.Thromb_11_131 |
| Author(s) : Maruyama T , Yamashita S , Matsuzawa Y , Bujo H , Takahashi K , Saito Y , Ishibashi S , Ohashi K , Shionoiri F , Gotoda T , Yamada N , Kita T |
| Ref : J Atheroscler Thromb , 11 :131 , 2004 |
| Abstract : Maruyama_2004_J.Atheroscler.Thromb_11_131 |
| ESTHER : Maruyama_2004_J.Atheroscler.Thromb_11_131 |
| PubMedSearch : Maruyama_2004_J.Atheroscler.Thromb_11_131 |
| PubMedID: 15256764 |