. Author manuscript; available in PMC: 2025 Sep 5.

Published in final edited form as: Nature. 2023 Aug 23;620(7976):1109–1116. doi: 10.1038/s41586-023-06462-1

Extended Data Table 1:

DOA Mutations currently identified in OPA1^1,18,19.

position (res no.)	WT seq (aa)	disease mutant (aa)	position (res no.)	WT seq (aa)	disease mutant (aa)	position (res no.)	WT seq (aa)	disease mutant (aa)	position (res no.)	WT seq (aa)	disease mutant (aa)
8	A	S	332 ^d	S	E*	501	V	D	728	N	K
15	Q	K	337	H	D	502^b,d	V	G	730	L	F
24	I	V	339	A	T, D	503 ^b	T	K	735 ^a	I	M
29	P	H*	340	L	P, Y*	505 ^a,b	K	N	736^a	S	L*
61	Q	R	342	K	E	515	I	K*	740	Q	L*
80	Y	H, C	343	D	A	517	E	I*	745 ^a,c,d	I	M
82	Y	C	346	R	Q, G*	518	Y	N*	746 ^a,c	Y	L*
85	R	H	357	A	T, L*	521	E	D*	747 ^a	F	L*
95	T	M	358	A	F*	524	Q	R, L, S*	755 ^a	R	C
101	R	Q*	366	R	Q	534	L	R	756 ^c	L	P
102	Y	C	371	V	G	541	T	A	759	T	M
115	A	V	376 ^a	T	A	545	S	R	765 ^a	N	K*
119	F	S	377	V	I	547	A	E	768	G	S, D
125	M	T	380	E	D	548 ^d	V	I, F*	770 ^c	D	E
127	P	L	381	T	S	549	S	I, F*	781 ^c	R	W
132	Y	I*	382	I	M	550	D	N	783 ^c	Q	R, P*
150	E	V*	384	L	F	551	C	Y	785 ^c	Q	R
158	S	N	385	N	C, R*	553	W	G*	786 ^c	C	F*
160	E	Q	391	L	R	554	K	N*	789 ^c	N	S, M*
167	P	L	394 ^d	M	V	556 ^d	V	E, S, Q	819 ^a	K	R*
187	S	A*	395	V	G	557 ^a	R	P, Y*	823 ^a,c	S	Y
189	E	G*	396	L	P, R	565 ^a	D	I*	831 ^a	S	N
191	T	M	399 ^d	L	Y*	571	R	H	832 ^a	L	F
192	A	V	400	P	A, L, S	574	L	P	833 ^d	I	L*
196	T	N*	401 ^b,d	G	R, D	575	E	K	841 ^a	Y	C
205 ^a	H	L*	402 ^a	V	M	582	Y	C	843 ^c	R	S
211	D	K*	404 ^a	N	K*	585	L	R*	846	L	F*
212 ^a	K	R*	405 ^a	T	I*	590	R	Q, W	852 ^c	H	T*
213 ^a	E	R*	409 ^a	G	D	592	E	Q*	856 ^d	C	N*
214 ^d	K	N*	410 ^a	M	H*	593	L	P	863 ^a,c	Y	I*
222	L	P	418	I	F	594	F	K*	864 ^a,c	Q	P*
235	R	Q	422	S	R	595	E	G*	872 ^a,c	L	W*
252	D	E*	426	M	L	601	I	V	873 ^a	E	G*
260	L	F	428	N	H, D	609	S	A*	880	F	A*
265	I	T*	430 ^a	N	D	612 ^a	T	Q*	881	W	L*
268	Y	C	431	A	S*	617	E	L*	882	R	L, C, G
269	S	F	434 ^a,b,d	L	P, R	627 ^a	R	E, S	885	R	H
270	E	K	435 ^d	C	R,Y	631 ^a	H	R*	887	L	P
272	L	P, F	443 ^a	A	T	646 ^a	S	L	894	L	F*
273	D	A	444 ^a	E	G	652	T	A	901	T	I, L*
280	A	V*	445 ^a	R	L, H	653 ^d	V	G	903	V	L, I, G, E*
285	Q	R	446 ^a	S	C	654	D	G, V*	907	E	G
290	R	Q, W, L	449 ^a	T	R, P	656 ^a	K	S*	909	N	C*
292 ^d	V	F	450 ^b	D	R*	659 ^a	Q	T*	910 ^d	V	D
296 ^a	D	E	452 ^d	V	S*	662	D	V*	921	G	C
298 ^a,b	S	N, G	457	P	T	663 ^a	K	N*	924	K	R*
299 ^b	A	P	459	G	E	666 ^d	P	L*	928	L	P
300 ^b	G	E	462 ^d	T	I	671 ^a	E	A	929	T	S
302 ^b	T	P	465 ^d	V	F	672	V	L*	932	R	C, L*
303 ^b	S	N	468 ^a,b	K	E	673 ^d	A	R*	933 ^d	V	F
310	Q	R	469 ^a	V	I	677 ^d	L	Y*	934	Q	P*
311	A	V*	470 ^a,b	D	G	683 ^a	R	H	939	L	P
313 ^d	I	K, E	471 ^a,b	L	P	687 ^a	E	D, T	942	V	S, E
317 ^a,b	G	D*	482	I	F, G*	699	K	N*	943	R	E*
322 ^b	M	R	487	E	K	701	K	R*	949	L	P, R, I, T*
326	P	Q*	488 ^a,b	G	R	709 ^a	I	G*	950	D	C*
328	K	R	493 ^d	M	K	716 ^a	D	E	952	F	S*
329 ^d	V	L	494	K	I*	717 ^a	F	C*	953	I	H*
330	T	S	495	A	V	718	A	E
331 ^d	L	P	499	F	L*	725	I	S*

Sites are colored by domain: luminal/MTS, dark gray; N-terminal linker before S1 cleavage site, light gray; N-terminal coiled-coil, medium gray; BSE, magenta; GTPase domain, green; hinge-1, lightest gray; stalk, blue; paddle, orange. Asterisks note single-point mutations resulting from a frame shift.

protein:protein interfaces

protein:nucleotide binding

membrane-binding

buried residues