Table 4

Mutations identified in MATN3 in nine patients with MED

Proband	Nucleotide change	Exon	Predicted protein change
Nucleotide and amino acid numbering is from the start site of translation.
This mutation has been previously reported by Chapman et al*¹⁰ to result in MED.
1	nt 656 c/c→c/a	2	A219D
1	nt 754 g/g→g/a	2	E252K
2	nt 575 t/t→t/a	2	I192N
3	nt 359 c/c→c/t	2	T120M
	nt 908 c/c→c/t	3	T303M
4	nt 400 g/g→g/a	2	E134K
5	nt 361 c/c→c/t	2	R121W*
6	nt 361 c/c→c/t	2	R121W*
7	nt 361 c/c→c/t	2	R121W*
8	nt 754 g/g→g/a	2	E252K
9	nt 754 g/g→g/a	2	E252K