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Fig. 1 | Orphanet Journal of Rare Diseases

Fig. 1

From: Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variants

Fig. 1

Functional analysis of c.1084-10G > A identified in the MUT gene. Splicing pattern observed in the minigene construct bearing the empty vector (pSPL3), normal minigene (c.1084-10G), and mutant vector c.1084-10G. The figure shows the splicing scores obtained using the Human Splicing Finder (www.umd.be/HSF3/). The ESE sequences were obtained using RESCUE-ESE software (www.genes.mit.edu/burgelab/rescue-ese)

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172