F40EfsX27_human-SPG21

General

Gene Locus : human-SPG21

Mode of mutation : Natural mutant

Disease : Mast 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.F40EfsX27 p.Phe40GlufsTer27 homozygous single base deletion c.118delC. first Italian family with SPG21 Cognitive decline prevailing on spastic paraparesis component

References (1)

Title : Exome sequencing reveals a novel homozygous mutation in ACP33 gene in the first Italian family with SPG21 -
Author(s) : Scarlato M , Citterio A , Barbieri A , Godi C , Panzeri E , Bassi MT
Ref : Journal of Neurology , 264 :2021 , 2017
PubMedID: 28752238
Gene_locus related to this paper: human-SPG21