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Fig. 3 | BMC Medical Genetics

Fig. 3

From: Identification of a novel loss-of-function mutation of the GLA gene in a Chinese Han family with Fabry disease

Fig. 3

Genetic screening and functional identification. a DNA sequences of the p.Asn278Lys site and adjacent bases of the eight subjects enrolled in the present study. b Genome Browser database of vertebrate species at the p.Asn278Lys mutation site and surrounding sequences. c In silico bioinformatic predictions for the function of the p.Asn278Lys mutation were made by four independent software packages: Polyphen-2, SIFT, Phylop, and MutationTaster. d Representative immunoblots and quantitation of α-Gal A protein expression with or without DGJ treatment in HEK293T cell lines transfected with GLA-Asn278 or GLA-Lys278. e Measurements of α-Gal A enzyme activity with or without DGJ treatment in KEK293T cell lines transfected with GLA-Asn278 or GLA-Lys278. Data are expressed as the means ± SD, n = 3 for each group, *p < 0.05

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BMC Medical Genetics

ISSN: 1471-2350

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