S317RfsX4_human-NDRG1

General

Gene Locus : human-NDRG1

Mode of mutation : Natural mutant

Disease : Hereditary motor and sensory neuropathy, LOM Type

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.S317RfsX4 Ser317ArgfsTer4 c.948delC

References (1)

Title : Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathies - Dohrn_2017_J.Neurochem_143_507
Author(s) : Dohrn MF , Glockle N , Mulahasanovic L , Heller C , Mohr J , Bauer C , Riesch E , Becker A , Battke F , Hortnagel K , Hornemann T , Suriyanarayanan S , Blankenburg M , Schulz JB , Claeys KG , Gess B , Katona I , Ferbert A , Vittore D , Grimm A , Wolking S , Schols L , Lerche H , Korenke GC , Fischer D , Schrank B , Kotzaeridou U , Kurlemann G , Drager B , Schirmacher A , Young P , Schlotter-Weigel B , Biskup S
Ref : Journal of Neurochemistry , 143 :507 , 2017
Abstract : Dohrn_2017_J.Neurochem_143_507
ESTHER : Dohrn_2017_J.Neurochem_143_507
PubMedSearch : Dohrn_2017_J.Neurochem_143_507
PubMedID: 28902413
Gene_locus related to this paper: human-NDRG1