F572L |
naturally occuring mutation, reconstructed by site-directed mutagenesis, involved in acid sphingomyelinase deficiency and subsequently in Niemann-Pick disease, marked deficiency of enzyme activity consistent with the disease phenotype in cells homoallelic for the mutation |
Homo sapiens |
G247D |
naturally occuring mutation, reconstructed by site-directed mutagenesis, involved in acid sphingomyelinase deficiency and subsequently in Niemann-Pick disease, marked deficiency of enzyme activity consistent with the disease phenotype in cells homoallelic for the mutation |
Homo sapiens |
S248R |
naturally occuring mutation, reconstructed by site-directed mutagenesis, involved in acid sphingomyelinase deficiency and subsequently in Niemann-Pick disease, marked deficiency of enzyme activity consistent with the disease phenotype in cells homoallelic for the mutation |
Homo sapiens |
W391G |
naturally occuring mutation, reconstructed by site-directed mutagenesis, involved in acid sphingomyelinase deficiency and subsequently in Niemann-Pick disease, marked deficiency of enzyme activity consistent with the disease phenotype in cells homoallelic for the mutation |
Homo sapiens |