E829RfsX6_human-DAGLA

General

Gene Locus : human-DAGLA

Mode of mutation : Natural mutant

Disease : Neuro-ocular DAGLA-related 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 : c.2484delC, p.E829RfsX6 p.Glu829RfsX6 case 2: in a9-year-old African American male with global developmental delay, hypotonia, ataxia, dysarthria, nystagmus, and intellectual disability || c.2484delC, p.E829RfsX6 p.Glu829ArgfsX6 Case 5 and sibling Case6: in 15-year-old Caucasians male and female with global developmental delay, hypotonia, ataxia, dysarthria, nystagmus, and intellectual disability.

References (1)

Title : Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome (NODRS) - Bainbridge_2022_Brain__
Author(s) : Bainbridge MN , Mazumder A , Ogasawara D , Abou Jamra R , Bernard G , Bertini E , Burglen L , Cope H , Crawford A , Derksen A , Dure L , Gantz E , Koch-Hogrebe M , Hurst ACE , Mahida S , Marshall P , Micalizzi A , Novelli A , Peng H , Rodriguez D , Robbins SL , Rutledge SL , Scalise R , Schliesske S , Shashi V , Srivastava S , Thiffault I , Topol S , Qebibo L , Wieczorek D , Cravatt B , Haricharan S , Torkamani A , Friedman J
Ref : Brain , : , 2022
Abstract : Bainbridge_2022_Brain__
ESTHER : Bainbridge_2022_Brain__
PubMedSearch : Bainbridge_2022_Brain__
PubMedID: 35737950
Gene_locus related to this paper: human-DAGLA