Table 1

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

Gene

Mutation

Codon

Comments

References


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

Qo binding pocket

[82]


Gly→Ser

34

Heme bh and Qi binding pocket

[83]


Trp→TER

135

[84]


Ser→Pro

151

Disrupts helix cd1, Qo site

[84]


Gly→Asp

251

Heme bl

[85]


Ser→Pro

35

Disrupts helix A, Qi pockect

[86]


da Fonseca et al. BMC Genomics 2008 9:119   doi:10.1186/1471-2164-9-119

Open Data