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. 2022 Feb 11;13(2):335. doi: 10.3390/genes13020335

Figure 2.

Figure 2

RAI1 gene and protein structures. At the top, RAI1 gene structure based on RefSeq NM_030665, including noncoding exons (white) and coding regions (dark grey). At the bottom, RAI1 protein structure with seven key functional domains, starting with N-terminal a polyglutamine rich tract (Poly-Q, orange), a polyserine rich domain (Poly-S, light purple), a bipartite Nuclear Localization Signal (NLS, green), a second Poly-S tract (light purple), a nucleosome-binding domain (NBD, blue), and a C-terminal “plant homeo-domain” (PHD, red). The pathogenic SMS-associated reported truncating and missense mutations are indicated in bold in the protein structure, the remaining variations reported are not associated with SMS, but with indicated conditions, according to HGMD Professional (version 3 September 2021) and ClinVar database. ID; intellectual disability, DD; developmental delay.