Fig. 2From: NSD1 gene evolves under episodic selection within primates and mutations of specific exons in humans cause Sotos syndromeLocation 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 signalsBack to article page