R199QfsX10_human-ABHD5

General

Gene Locus : human-ABHD5

Mode of mutation : Natural mutant

Disease : Chanarin-Dorfman syndrome

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 :
often refered as N209X. p.R199QfsX10 p.Arg199GlnfsTer10 c.594dup c.594insC homozygous 594insC mutation in exon 4. Frameshift and premature termination at amino acid 209 fsN209X N209Xfs rs387906335 RCV000005681

References (9)

Title : Recurrent N209* ABHD5 mutation in two unreported families with Chanarin Dorfman Syndrome - Tavian_2021_Eur.J.Transl.Myol__
Author(s) : Tavian D , Durdu M , Angelini C , Torre E , Missaglia S
Ref : Eur J Transl Myol , : , 2021
Abstract :
PubMedSearch : Tavian_2021_Eur.J.Transl.Myol__
PubMedID: 33985321
Gene_locus related to this paper: human-ABHD5

Title : Clinical and genetic characterization of a Chanarin Dorfman Syndrome patient born to diseased parents - Durdu_2018_BMC.Med.Genet_19_88
Author(s) : Durdu M , Missaglia S , Moro L , Tavian D
Ref : BMC Med Genet , 19 :88 , 2018
Abstract :
PubMedSearch : Durdu_2018_BMC.Med.Genet_19_88
PubMedID: 29843625
Gene_locus related to this paper: human-ABHD5

Title : Chanarin-Dorfman syndrome in three siblings in a non-consanguineous family -
Author(s) : Gomez-Moyano E , Godoy-Diaz DJ , Ponce-Verdugo L , Sanz-Trelles A , Vera-Casano A , Sierra-Salinas C
Ref : J Eur Acad Dermatol Venereol , 30 :157 , 2016
PubMedID: 25087691
Gene_locus related to this paper: human-ABHD5

Title : Cerebral lipid accumulation in Chanarin-Dorfman Syndrome - Huigen_2015_Mol.Genet.Metab_114_51
Author(s) : Huigen MC , van der Graaf M , Morava E , Dassel AC , van Steensel MA , Seyger MM , Wevers RA , Willemsen MA
Ref : Mol Genet Metab , 114 :51 , 2015
Abstract :
PubMedSearch : Huigen_2015_Mol.Genet.Metab_114_51
PubMedID: 25468645

Title : Chanarin-Dorfman syndrome: Genotype-Phenotype Correlation - Nur_2015_Eur.J.Med.Genet_58_238
Author(s) : Nur BG , Gencpinar P , Yuzbasioglu A , Emre SD , Mihci E
Ref : Eur Journal of Medical Genetics , 58 :238 , 2015
Abstract :
PubMedSearch : Nur_2015_Eur.J.Med.Genet_58_238
PubMedID: 25682902
Gene_locus related to this paper: human-ABHD5

Title : Chanarin-dorfman syndrome with multi-system involvement in two siblings - Arslansoyu Camlar_2013_Turk.J.Haematol_30_72
Author(s) : Arslansoyu Camlar S , Gencpinar P , Makay B , Yuzbasioglu A , Arslan N , Emre Dokmeci S , Anal O , Kose G
Ref : Turk J Haematol , 30 :72 , 2013
Abstract :
PubMedSearch : Arslansoyu Camlar_2013_Turk.J.Haematol_30_72
PubMedID: 24385758
Gene_locus related to this paper: human-ABHD5

Title : Steatohepatitis and liver cirrhosis in Chanarin-Dorfman syndrome with a new ABDH5 mutation - Cakmak_2012_Clin.Res.Hepatol.Gastroenterol_36_e34
Author(s) : Cakmak E , Alagozlu H , Yonem O , Ataseven H , Citli S , Ozer H
Ref : Clin Res Hepatol Gastroenterol , 36 :e34 , 2012
Abstract :
PubMedSearch : Cakmak_2012_Clin.Res.Hepatol.Gastroenterol_36_e34
PubMedID: 22245374
Gene_locus related to this paper: human-ABHD5

Title : Molecular analysis of Chanarin-Dorfman syndrome (CDS) patients: Identification of novel mutations in the ABHD5 gene - Emre_2010_Eur.J.Med.Genet_53_141
Author(s) : Emre S , Unver N , Evans SE , Yuzbasioglu A , Gurakan F , Gumruk F , Karaduman A
Ref : Eur Journal of Medical Genetics , 53 :141 , 2010
Abstract :
PubMedSearch : Emre_2010_Eur.J.Med.Genet_53_141
PubMedID: 20307695

Title : Mutations in CGI-58, the gene encoding a new protein of the esterase\/lipase\/thioesterase subfamily, in Chanarin-Dorfman syndrome - Lefevre_2001_Am.J.Hum.Genet_69_1002
Author(s) : Lefevre C , Jobard F , Caux F , Bouadjar B , Karaduman A , Heilig R , Lakhdar H , Wollenberg A , Verret JL , Weissenbach J , Ozguc M , Lathrop M , Prud'homme JF , Fischer J
Ref : American Journal of Human Genetics , 69 :1002 , 2001
Abstract :
PubMedSearch : Lefevre_2001_Am.J.Hum.Genet_69_1002
PubMedID: 11590543
Gene_locus related to this paper: human-ABHD5