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Fig. 4 | Orphanet Journal of Rare Diseases

Fig. 4

From: KBG syndrome

Fig. 4

Location of reported causative variants in ANKRD11. Asterisks show location of recurrent variants, and y-axis gives reference for number of occurrences. From left to right these recurrent variants are as follows: NM_013275.5:c.1381_1384del (p.Glu461Glnfs*48), NM_013275.5:c.1801C > T (p.Arg601*), NM_013275.5:c.1903_1907del (p.Lys635Glnfs*26), NM_013275.5:c.2398_2401del (p.Glu800Asnfs*62), NM_013275.5:c.2408_2412del (p.Lys803Argfs*5), and NM_013275.5:c.3224_3227del (p.Glu1075Glyfs*242). The length of each line is proportional to the number of occurrences. ANK: Ankyrin repeat-containing domain (p.152–304). RD1: Repression Domain1 (p.318–611). Activation Domain (p.1851–2145). RD2: Repression Domain2 (p.2369–2663). Boundaries of exons are shown as alternating black and white boxes

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