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L550SfsX19_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.L550SfsX19 Leu550SerfsTer19 c.1643_1646 dup ATCT. A four base pair duplication in exon 15 and c.1646_1647insAGAT p.Leu550Aspfs*19 frameshift LOF Finland, Belgium

References (2)

Title : Novel mutations in SERAC1 gene in two Indian patients presenting with dystonia and intellectual disability - Radha Rama Devi_2018_Eur.J.Med.Genet_61_100
Author(s) : Radha Rama Devi A , Lingappa L
Ref : Eur Journal of Medical Genetics , 61 :100 , 2018
Abstract :
PubMedSearch : Radha Rama Devi_2018_Eur.J.Med.Genet_61_100
PubMedID: 28778788
Gene_locus related to this paper: human-SERAC1

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