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Fig. 2 | BMC Medical Genetics

Fig. 2

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

Fig. 2

Identification of novel variants. (A1) and (B1): Sanger sequencing revealed two novel variants Val17Gly and Ala448Thr in GBA gene. (A2) and (B2): The superimposed model of native structure (blue) and mutant structure (white) of Val17Gly and Ala448Thr shows conformational changes in the β pleated sheet; indicated by an arrow. (A3) and (B3): the multiple alignments of the protein sequence region surrounding the variants Val17Gly and Ala448Thr against various orthologous sequences. The conserved residues Valine (V) and Alanine (A) in the orthologs are mark red

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BMC Medical Genetics

ISSN: 1471-2350

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