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Fig. 2 | BMC Medical Genetics

Fig. 2

From: Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation

Fig. 2

Identification of novel variants in GBA1 gene. a Illustrative representation of the distributions of the novel variants identified in Indian Gaucher patients investigated in this study. b Sanger sequencing discovered four missense variants in GBA1 gene. The variants p.Ser136Leu, p.Gly383Asp, and p.Gly399Arg, were identified, as compound heterozygotes along with another know mutant allele. The variant p.Leu279Val existed in homozygous form. An arrow indicates the point of variation. c The multiple alignment of the protein sequence surrounding the novel variants against various orthologous sequence revealed the conservative status of the wildtype residues (marked red)

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BMC Medical Genetics

ISSN: 1471-2350

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