Table 3.

List of mutations and their positions, the effect provided by ClinVar, calculated ΔΔΔG. ΔΔΔG(A) and ΔΔΔG(B) indicate calculations made with mutation introduced in chain A and B, respectively. ΔΔΔG(A + B) is the sum of both predictions.

WT Residue	Position	MT Residue	Effect	ΔΔΔG(A)	ΔΔΔG(B)	ΔΔΔG(A + B)
I	74	T	Disease	0.50	0.29	0.79
R	134	S	Polymorphism	0.32	0.64	0.96
C	135	R	Disease	0.48	0.01	0.48
W	148	R	Unclassified	0.13	0.74	0.88
A	150	P	Disease	0.52	0.74	1.27
A	175	D	Disease	0.56	0.52	1.08
C	178	R	Disease	0.46	0.00	0.46
P	185	R	Disease	0.03	−0.01	0.03
E	207	Q	Polymorphism	0.35	0.15	0.49
V	222	F	Disease	0.32	0.61	0.93
L	229	P	Disease	0.86	0.85	1.72
L	257	P	Disease	0.80	0.69	1.49
I	268	N	Polymorphism	0.42	0.54	0.96
L	284	P	Disease	0.85	0.85	1.69
R	304	Q	Disease	0.39	0.22	0.61
R	304	W	Disease	0.27	0.24	0.52
N	335	K	Disease	-0.12	0.00	−0.12
A	338	V	Disease	0.20	0.07	0.27