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Fig. 2 | BMC Genomics

Fig. 2

From: NSD1 gene evolves under episodic selection within primates and mutations of specific exons in humans cause Sotos syndrome

Fig. 2

Location of mutations causing Sotos syndrome in human and the exon, and localization of the functional domains described in humans [10]. Total number of variants are 257. Upper graph: Y-axis is the percentage of mutations reported in humans. X-axis are the 23 exons along NSD1. Most deletions and insertions locate in exon 22, nonsense in exon 10, missense in exon 20 and splice-site in exon 15. White = deletion. Diagonal lines = insertion. Grey = nonsense. Black = missense. Straight lines = splice-sites. Lower graph: Localization of the functional domains described in humans along the NSD1 exons. PWWP = proline–tryptophan–tryptophan–proline domains, PHD1–PHD5 = plant homeodomains. PHD6 = variant C5HC3 PHD finger 6. AWS = pre-SET domain. NID = nuclear receptor-interaction. NLS = nuclear localization signals

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