Table 1.

Collection of the described human deleterious mutations (de novo) affecting conserved domains of CHD proteins. Data obtained from the ClinVar database (https://www.ncbi.nlm.nih.gov/clinvar. Accessed on 2 November 2020) [63] and also described in the literature.

Protein	Mutation	Domain	Phenotype	Inheritance	Orthologue Variability	Paralogue Variability	References
CHD1	p.Arg618Gln	Helicase ATP-binding (493-663 a.a.)	Pilarowski-Bjornsson Syndrome (α)	Autosomal Dominant	No	No	Pilarowski et al. (2018) [24]
CHD3	p.Leu915Phe p.His886Asp	Helicase ATP-binding (748–932 a.a.)	Snijders Blok-Campeau Syndrome, Intellectual disability (β)	Autosomal Dominant	No	No	Snijders Blok et al. (2018) [27]
	p.Arg1121Pro, p.Trp1158Arg p.Asn1159Lys p.Arg1169Trp p.Arg1172Gln	Helicase C-terminal (1064–1229 a.a.)	Snijders Blok-Campeau Syndrome, Intellectual disability (β)	Autosomal Dominant	No	Yes (p.Arg1121Pro)	Snijders Blok et al. (2018) [27]
CHD4	p.Ser851Tyr	Helicase ATP-binding (738–922 a.a.)	Sifrim-Hitz-Weiss syndrome (γ)	Autosomal Dominant	No	Yes	Sifrim et al. (2016) [29]
	p.Arg1068His p.Glu1094Lys p.Arg1127Gln p.Trp1148Leu p.Arg1173Leu	Helicase C-terminal (1054–1203 a.a.)	Sifrim-Hitz-Weiss syndrome (γ)	Autosomal Dominant	No	Yes (p.Arg1068His and p.Glu1094Lys)	Sifrim et al. (2016) [29] Weiss et al. (2016) [28] Weiss et al. (2020) [80] Richards et al. (2015) [81]
CHD7	p.Ser834Phe	Chromo 1 (800–867 a.a.)	CHARGE association, Idiopathic hypogonadotropic hypogonadism (δ)	Autosomal Dominant	No	No	Delahaye et al. (2007) [33] Kim et al. (2008) [41]
	p.Ile1028Val p.Cys1101Arg	Helicase ATP-binding (980-1154 a.a.)	CHARGE association (δ)	Autosomal Dominant	No	Yes	Vissers et al. (2004) [32] Bergman et al. (2011) [82]
	p.Leu1294Pro p.Leu1302Pro	Helicase C-terminal (1294–1464 a.a.)	CHARGE association (δ)	Autosomal Dominant	No	Yes (p.Leu1302Pro)	Hale et al. (2016) [83] Lalani et al. (2006) [84] Legendre et al. (2017) [42]