Table 2.

Comparison of clinical outcome and the predicted changes in the mitofusin 2 structure due to mutations position and properties of substituted amino acids.

Amino acid position	Clinical outcome	Structure impairment
Arg104	Trp > Gln	Trp > Gln
Gly127	Asp > Val	Asp > Val
His165	Asp > Arg > Leu = Tyr	Asp > Arg > Leu = Tyr
Asp210	Tyr = Val	Tyr > Val
Val244	Leu $\ge$ Met	Leu = Met
Arg250	Trp > Gln	Trp > Gln
Pro251	Arg > Ala > Leu	Arg > Ala = Leu
Arg259	Leu $\ge$ Cys > His	Leu = Cys > His
Arg274	Trp > Gln	Trp > Gln
Gln276	Arg = His	Arg = His
His277	Tyr > Arg	Tyr = Arg