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Fig. 2 | BMC Neurology

Fig. 2

From: Batten disease: biochemical and molecular characterization revealing novel PPT1 and TPP1 gene mutations in Indian patients

Fig. 2

Identification of novel and most common variants in TPP1 gene. a Illustrative representation of the distributions of the novel and most common variants identified in Indian NCL2 patients investigated in this study. b Sanger sequencing discovered one intronic variant (In4:g.2023_2024insT), three missense variants (Ex5:p.Arg152Ser, Ex11:p.Tyr459Ser and Ex6:p.Arg206Cys), four frameshift variants (Ex3:p.Ser62Argfs*19, Ex5:p.Ser153Profs*19, Ex7:p.Phe230Serfs*28, and Ex12:p.Ile484Aspfs*7), and one nonsense variant (Ex5:p.Tyr157*) in TPP1 gene. The common variant Ex6:p.Arg206Cys occurred in 26% of the patients. The point of variation is indicated by an arrow. 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). However, the residue isoleucine at the position 484 was found to be conserved in four out of nine species.

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