Mutation Report for: Y524X_human-PGAP1Y524X_human-PGAP1 Gene_Locus | | | human-PGAP1 |
---|
Mode of mutation | | | Natural mutant |
---|
Amino Acid change | | | |
---|
Torpedo number | | | |
---|
Summary | | | |
---|
Comment | | | p.Y524X Tyr524X c.1572T>A compound heterozygous with another nonsense variant c.1396C>T (p.Gln466X) |
---|
Kinetic parameters | | | none |
---|
References:
Title: Additional evidence that PGAP1 loss of function causes autosomal recessive global developmental delay and encephalopathy
Williams C, Jiang YH, Shashi V, Crimian R, Schoch K, Harper A, McHale D, Goldstein D, Petrovski S
Ref: Clin Genet, 88:597, 2015 : PubMed
        
|
|
|