Table 2.

Pathological mutations found in CNNMs identified in patients. Asterisk indicates a premature stop codon. “X” indicates the amino acid after which the protein is truncated. CNBH refers to cyclic-nucleotide-binding homology domain.

Protein	Mutation	Domain	Pathology	References
CNNM2	R38Q, E122K	Extracellular	Hypomagnesemia	[17,22]
	S269W, L330F, E357K	DUF21	Hypomagnesemia	[17]
	T568I	Bateman module	Hypomagnesemia	[46]
CNNM4	D63E	Extracellular	Jalili Syndrome	[49]
	S196P, S200Y, I232P, R236Q, L324P	DUF21	Jalili Syndrome	[14,47,50]
	G364V, G492C, L438P, T495I, V499M	Bateman Module	Jalili Syndrome	[14,50,51,52,53]
	R519X	Linker Bateman-CNBH	Jalili Syndrome	[54]
	N594S, Q564X, R605X, T581 *	CNBH	Jalili Syndrome	[47,55,56]