Gene Locus : human-LIPC
Mode of mutation : Natural mutant
Disease : Hepatic triglyceride lipase Deficiency
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.V134>VHYTVAV An inserted repeat of 18 nucleotides.Insertion carries an additional missense mutation A-->G at nucleotide 9 of the repeat which results in an amino acid exchange from Ile-->Val at codon 4 of the repeat.Insertion of HisTyrThrValArgVal
| Title : 18 bp Insertion\/Duplication With Internal Missense Mutation in Human Hepatic Lipase Gene Exon 3. - |
| Author(s) : Tiebel O , Gehrisch S , Pietzsch J , Gromeier S , Jaross W |
| Ref : Hum Mutat , 12 :216 , 1998 |
| PubMedID: 10660332 |
| Gene_locus related to this paper: human-LIPC |