Table 2.

List of mutations and their positions, the effect provided by ClinVar, calculated ΔΔΔG and the location of mutation site within protein interface (for interfacial regions definition, see Methods). WT: wild type; MT: mutant type complexes.

WT Residue	Position	MT Residue	Effect	ΔΔΔG	Location
Q	36	L	Disease	0.00	SUP
Y	38	H	Disease	−0.42	INT
K	41	E	Disease	1.04	SUR
K	41	I	Disease	0.29	SUR
D	46	G	Disease	−1.25	SUR
S	52	N	Disease	0.00	RIM-COR
R	55	K	Disease	1.29	COR
C	63	W	Disease	0.07	INT-SUP
K	64	I	Disease	4.50	COR
I	70	V	Unclassified	0.42	INT
K	84	E	Polymorphism	0.81	SUR
P	136	L	Disease	−0.06	INT
V	137	I	Disease	0.79	SUP
H	138	R	Disease	−1.32	COR