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Table 3 Carrier frequency analysis of Gaucher disease common mutation c.1448T>C (Leu444Pro)

From: Biochemical and molecular characterization of adult patients with type I Gaucher disease and carrier frequency analysis of Leu444Pro - a common Gaucher disease mutation in India

Disease Gaucher
Gene GBA
Mutation c.1448T>C
Samples tested 1200
Heterozygote detected in this study T/C: 2
Carrier frequency 1:600
allele frequency (T>C) 1:1200
Wild-type allele frequency T: 0.97113
Mutant allele frequency C: 0.02887
Transcript identification ENST00000327247.5
Mutation type Missense
Mutation effect Glucocerebrosidase enzyme deficiency
Promising therapeutic approaches Enzyme Replacement Therapy (ERT)