PMID: 26099175

Lill R, Dutkiewicz R, Freibert SA, Heidenreich T, Mascarenhas J, Netz DJ, Paul VD, Pierik AJ, Richter N, Stumpfig M, Srinivasan V, Stehling O, Muhlenhoff U
The role of mitochondria and the CIA machinery in the maturation of cytosolic and nuclear iron-sulfur proteins.
Eur J Cell Biol. 2015 Jul-Sep;94(7-9):280-91. doi: 10.1016/j.ejcb.2015.05.002. Epub 2015 May 31., [PubMed]
Sentences
No. Mutations Sentence Comment
301 ABCB7 p.Val411Leu
X
ABCB7 p.Val411Leu 26099175:301:227
status: NEW
view ABCB7 p.Val411Leu details
ABCB7 p.Ile400Met
X
ABCB7 p.Ile400Met 26099175:301:167
status: NEW
view ABCB7 p.Ile400Met details
ABCB7 p.Glu208Asp
X
ABCB7 p.Glu208Asp 26099175:301:78
status: NEW
view ABCB7 p.Glu208Asp details
 All mutated residues are located in the membrane domain either on the matrix (E208D in long TM2 helix; yeast E173 D`Hooghe et al., 2012) or intermembrane space sides (I400M between TM5-TM6, yeast V365 (Allikmets et al., 1999); V411L in TM6, yeast V376 (Maguire et al., 2001) (Fig. 4). Login to comment