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Fig. 1 | Orphanet Journal of Rare Diseases

Fig. 1

From: Biochemical and mutational analyses of HEXA in a cohort of Egyptian patients with infantile Tay-Sachs disease. Expansion of the mutation spectrum

Fig. 1

Sanger sequencing chromatographs of HEXA gene mutations in Egyptian patients with infantile TSD. The chromatographs showed the mutations identified in nine patients [P1-P9] in exons 5, 8, and 13 as well as the polymorphic variations. a (P9): c.484 delG (homozygous); b (P6): c.952C > G (P.H318D (homozygous); c (P7): c.920A > C (p.E307A) (homozygous); d (P5): c.1495C > T (p. R499C) homozygous; e (P1,2,3): c.1510C > T (p.R504C) homozygous and heterozygous; f (P4): c.1511G > A (p.R504H) (homozygous); g (P11): c.6A > G (p.T2T). Silent rare sequence variant. h (P8): c.8G > C (p.S3T). Polymorphic variant. i (P1-18,C1-5): c.1518.G > A (p.E506E). Silent sequence variant. j (P1-18, C1-5): c.1306.G > A (p. I436V). Polymorphic variant. Arrows indicate the locations of the mutations in the amino-acid sequence of α-hexosaminidase A protein. *: Novel variant, c.: c.DNA, p: protein

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172