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Fig. 3 | BMC Neurology

Fig. 3

From: Structural and functional implications of SLC13A3 and SLC9A6 mutations: an in silico approach to understanding intellectual disability

Fig. 3

(A) Representing the location of SLC13A3 (q13.12) at chromosome 20. (B) representing typical structure of the SLC13A3 gene comprising 13 exons and also indicating the location of the missense variant (c.1478 C > T; p. Pro493Leu) in exon-11 (C) Chromatograms of homozygous unaffected son (V-1), heterozygous carrier father (IV-1) and homozygous affected son (V-2) of family A. (D) Location of SLC9A6 (q26.3) at chromosome X. (E) the typical structure of SLC9A6 gene comprising 16 exons, indicating the location of the missense variant (c.1342G > A; p. Gly448Arg) in exon-10. (F) Chromatograms of hemizygous unaffected father (IV-1), heterozygous carrier mother (IV-2) and hemizygous affected son (V-3) of family B

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BMC Neurology

ISSN: 1471-2377

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