Gene Locus : human-PGAP1
Mode of mutation : Natural mutant
Disease : Mental retardation, autosomal recessive 42 MRT42
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.E113Rfs Glu113Argfs c.334_335InsA one base pair insertion leading to a frame shift (named A112Afs in the publication) compound heterozygote with a splice site mutation leading to exon 10 skipping IVS
| Title : Compound heterozygous variants in PGAP1 causing severe psychomotor retardation, brain atrophy, recurrent apneas and delayed myelination: a case report and literature review - Kettwig_2016_BMC.Neurol_16_74 |
| Author(s) : Kettwig M , Elpeleg O , Wegener E , Dreha-Kulaczewski S , Henneke M , Gartner J , Huppke P |
| Ref : BMC Neurol , 16 :74 , 2016 |
| Abstract : Kettwig_2016_BMC.Neurol_16_74 |
| ESTHER : Kettwig_2016_BMC.Neurol_16_74 |
| PubMedSearch : Kettwig_2016_BMC.Neurol_16_74 |
| PubMedID: 27206732 |