PMID: 24604199

Srinivasan V, Pierik AJ, Lill R
Crystal structures of nucleotide-free and glutathione-bound mitochondrial ABC transporter Atm1.
Science. 2014 Mar 7;343(6175):1137-40. doi: 10.1126/science.1246729., [PubMed]
Sentences
No. Mutations Sentence Comment
91 ABCB7 p.Val411Leu
X
ABCB7 p.Val411Leu 24604199:91:211
status: NEW
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ABCB7 p.Ile400Met
X
ABCB7 p.Ile400Met 24604199:91:167
status: NEW
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ABCB7 p.Glu208Asp
X
ABCB7 p.Glu208Asp 24604199:91:95
status: NEW
view ABCB7 p.Glu208Asp details
 Three of the XLSA/A patient mutations are located in the membrane domain either on the matrix [E208D in long TM2 helix; yeast E173 (29)] or intermembrane space sides (I400M between TM5 and TM6, yeast V365 (26); V411L in TM6, yeast V376 (28)] (Fig. 2A and fig. S1A). Login to comment 92 ABCB7 p.Glu208Asp
X
ABCB7 p.Glu208Asp 24604199:92:87
status: NEW
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ABCB7 p.Glu208Asp
X
ABCB7 p.Glu208Asp 24604199:92:108
status: NEW
view ABCB7 p.Glu208Asp details
 (In the mutants, other amino acids were substituted at certain locations; for example, E208D indicates that glutamic acid at position 208 was replaced by aspartic acid.) Login to comment