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.Y524X Tyr524X c.1572T>A compound heterozygous with another nonsense variant c.1396C>T (p.Gln466X)
| Title : Additional evidence that PGAP1 loss of function causes autosomal recessive global developmental delay and encephalopathy - |
| Author(s) : Williams C , Jiang YH , Shashi V , Crimian R , Schoch K , Harper A , McHale D , Goldstein D , Petrovski S |
| Ref : Clin Genet , 88 :597 , 2015 |
| PubMedID: 25823418 |