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Y548X_human-SERAC1

General

Gene Locus : human-SERAC1

Mode of mutation : Natural mutant

Disease : MEGDEL 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 :
p.Y548X Tyr548Ter c.1644T>G:Homozygous mutation and c.1642dup p.Tyr548Leufs*20 frameshift LOF 24 homozygous Poland

References (2)

Title : Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases - Maas_2017_Ann.Neurol_82_1004
Author(s) : Maas RR , Iwanicka-Pronicka K , Kalkan Ucar S , Alhaddad B , AlSayed M , Al-Owain MA , Al-Zaidan HI , Balasubramaniam S , Baric I , Bubshait DK , Burlina A , Christodoulou J , Chung WK , Colombo R , Darin N , Freisinger P , Garcia Silva MT , Grunewald S , Haack TB , van Hasselt PM , Hikmat O , Horster F , Isohanni P , Ramzan K , Kovacs-Nagy R , Krumina Z , Martin-Hernandez E , Mayr JA , McClean P , de Meirleir L , Naess K , Ngu LH , Pajdowska M , Rahman S , Riordan G , Riley L , Roeben B , Rutsch F , Santer R , Schiff M , Seders M , Sequeira S , Sperl W , Staufner C , Synofzik M , Taylor RW , Trubicka J , Tsiakas K , Unal O , Wassmer E , Wedatilake Y , Wolff T , Prokisch H , Morava E , Pronicka E , Wevers RA , de Brouwer AP , Wortmann SB
Ref : Annals of Neurology , 82 :1004 , 2017
Abstract :
PubMedSearch : Maas_2017_Ann.Neurol_82_1004
PubMedID: 29205472
Gene_locus related to this paper: human-SERAC1

Title : The clinical syndrome of dystonia with anarthria\/aphonia - Ganos_2016_Parkinsonism.Relat.Disord_24_20
Author(s) : Ganos C , Crowe B , Stamelou M , Kresojevic N , Lukic MJ , Bras J , Guerreiro R , Taiwo F , Balint B , Batla A , Schneider SA , Erro R , Svetel M , Kostic V , Kurian MA , Bhatia KP
Ref : Parkinsonism Relat Disord , 24 :20 , 2016
Abstract :
PubMedSearch : Ganos_2016_Parkinsonism.Relat.Disord_24_20
PubMedID: 26924602
Gene_locus related to this paper: human-SERAC1