ABCB7 p.Glu208Asp
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PMID: 24604199
[PubMed]
Srinivasan V et al: "Crystal structures of nucleotide-free and glutathione-bound mitochondrial ABC transporter Atm1."
No.
Sentence
Comment
91
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).
X
ABCB7 p.Glu208Asp 24604199:91:95
status: NEW92 (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.)
X
ABCB7 p.Glu208Asp 24604199:92:87
status: NEWX
ABCB7 p.Glu208Asp 24604199:92:108
status: NEW
PMID: 26099175
[PubMed]
Lill R et al: "The role of mitochondria and the CIA machinery in the maturation of cytosolic and nuclear iron-sulfur proteins."
No.
Sentence
Comment
301
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).
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ABCB7 p.Glu208Asp 26099175:301:78
status: NEW