Table 1 Examples of mutations in mitochondrial genes that cause exercise intolerance in humans.

ND1

Ala→Thr

52

[75]

Thr→Ala

164

[76]

ND4

Trp→TER

358

[77]

COX1

Trp→TER

6

[78]

COX2

Met→Lys

29

First N-terminal membrane-spanning region of COXII: a structural association of COXII with COXI is necessary to stabilize the binding of heme a3 to COXI.

[79]

COX3

Trp→TER

249

Loss of the last 13 amino acids of the highly conserved C-terminal region of this subunit.

[80]

Trp→TER

58

[81]

CYTB

Gly→Asp

290

Q_o binding pocket

[82]

Gly→Ser

34

Heme b_h and Q_i binding pocket

[83]

Trp→TER

135

[84]

Ser→Pro

151

Disrupts helix cd₁, Qo site

[84]

Gly→Asp

251

Heme b_l

[85]

Ser→Pro

35

Disrupts helix A, Q_i pockect

[86]