R693VfsX76_human-LIPE

General

Gene Locus : human-LIPE

Mode of mutation : Natural mutant

Disease :

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 :
Patient B was compound heterozygous for two frameshift variants: c.1890_1891del\; p.(Leu631Glyfs*57) L631GfsX57, and c.2077del\; p.(Arg693Valfs*76) R693VfsX76

References (1)

Title : LIPE-related lipodystrophic syndrome: clinical characteristics and disease modelling using adipose stem cells - Sollier_2020_Eur.J.Endocrinol_184_155
Author(s) : Sollier C , Capel E , Aguilhon C , Smirnov V , Auclair M , Douillard C , Ladsous M , Defoort-Dhellemmes S , Gorwood J , Braud L , Motterlini R , Vatier C , Lascols O , Renard E , Vigouroux C , Jeru I
Ref : European Journal of Endocrinology , 184 :155 , 2021
PubMedID: 33112291
Gene_locus related to this paper: human-LIPE