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. 2013 Jun 12;22(2):270–272. doi: 10.1038/ejhg.2013.133

Table 1. CDKL5 missense mutations located in the 3′-end of CDKL5.

Mutation AA change Exon Phenotype Polyphen-2 score Prediction Reference
c.2830C>A p.Pro944Thr 20 AtyRTT 0.009 Benign This study
c.2896G>A p.Val966Ile 20 AtyRTT 0.008 Benign Das et al12
c.2995G>A p.Val999Met 21 AtyRTT 0.275 Benign Nectoux et al 9; This study
c.3032C>T p.Ala1011Val 21 AtyRTT 0.0 Benign Das et al12
c.3037G>A p.Val1013Ile 21 ASD 0.0 Benign Schaaf et al4

Abbreviation: CDKL5, cyclin-dependent kinase-like 5.