ABCMdb

ABCB7 p.Ile400Met

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Publications

PMID: 21464130 [PubMed] Gonzalez-Cabo P et al: "Disruption of the ATP-binding cassette B7 (ABTM-1/ABCB7) induces oxidative stress and premature cell death in Caenorhabditis elegans."

No. Sentence Comment

20 Two of these are missense mutations, which cause the substitution of residues within the ABCB7 transmembrane domains: V411L (4) and I400M (2). Login to comment

PMID: 18637800 [PubMed] Camaschella C et al: "Recent advances in the understanding of inherited sideroblastic anaemia."

No. Sentence Comment

132 The missense mutations (Ile400 Met Glu 433Lys, Val 411Leu) reported in patients are unable to rescue the Atm1p-deficient phenotype, indicating that they are partial loss of function mutations (reviewed in Fleming, 2002). Login to comment

PMID: 17192393 [PubMed] Cavadini P et al: "RNA silencing of the mitochondrial ABCB7 transporter in HeLa cells causes an iron-deficient phenotype with mitochondrial iron overload."

No. Sentence Comment

15 They consist of missense mutations (I400M, E433K, and V411L) at the border of putative transmembrane domains of the protein and were found to rescue only partially the defects of Atm1p-deficient yeasts.6 A study on erythroid cells showed that ABCB7 expression increases the activity of ferrochelatase by binding to its C-terminus.21 The recent study of mice deficient in ABCB7 showed that the protein is essential in early gestation. Login to comment
13 (c) 2007 by The American Society of Hematology 3552 They consist of missense mutations (I400M, E433K, and V411L) at the border of putative transmembrane domains of the protein and were found to rescue only partially the defects of Atm1p-deficient yeasts.6 A study on erythroid cells showed that ABCB7 expression increases the activity of ferrochelatase by binding to its C-terminus.21 The recent study of mice deficient in ABCB7 showed that the protein is essential in early gestation. Login to comment

PMID: 11843825 [PubMed] Maguire A et al: "X-linked cerebellar ataxia and sideroblastic anaemia associated with a missense mutation in the ABC7 gene predicting V411L."

No. Sentence Comment

137 Furthermore, the predicted amino acid substitutions arising from previously reported mutations I400M (Allikmets et al, 1999) and E433K (Bekri et al, 2000) and that reported here at residue 411 highlight the importance of this region of the protein in iron homeostasis and ataxia. Login to comment

PMID: 11050011 [PubMed] Bekri S et al: "Human ABC7 transporter: gene structure and mutation causing X-linked sideroblastic anemia with ataxia with disruption of cytosolic iron-sulfur protein maturation."

No. Sentence Comment

206 These results represent the second mutation in the human ABC7 gene and therefore confirm and extend the previous identification of an ABC7 mutation (1208T3G) that substituted a methionine for an isoleucine at codon 400 in exon 9 as the cause of XLSA/A. Login to comment
202 These results represent the second mutation in the human ABC7 gene and therefore confirm and extend the previous identification of an ABC7 mutation (1208T3G) that substituted a methionine for an isoleucine at codon 400 in exon 9 as the cause of XLSA/A. Login to comment

PMID: 10196363 [PubMed] Allikmets R et al: "Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A)."

No. Sentence Comment

4 An I400M variant was identified in a predicted transmembrane segment of the ABC7 gene in patients with XLSA/A. Login to comment
43 A sequence variant was detected (T1200G) that changes the amino acid sequence from Ile (ATT) to Met (ATG) at position 400 (I400M). Login to comment
46 The I400M substitution was found to segregate in the family and was detected in all affected individuals and, in the heterozygous state, in female obligate carriers (Fig. 3). Login to comment
47 The I400M allele was also found in individuals III-4, II-3 and II-4. Login to comment
48 Although we cannot completely rule out the possibility that this is a rare neutral variant, the I400M mutation was not detected in any of the 600 chromosomes from racially matched (European American) general population controls. Login to comment
49 To evaluate the functional consequences of the observed I400M substitution in the ABC7 protein, the corresponding V365M mutation was made in the yeast ATM1 gene. Login to comment
76 The location of the I400M missense mutation is shown above the sequence. Login to comment
86 Segregation of SSCP variants of the I400M mutation in the ABC7 genein kindredwith XLSA/A.Sequence analysisofSSCPbands(shownbelow the pedigree) revealed the existence of wild-type sequence (band 2) and mutant sequence (band 1). Login to comment
87 DNA sequencing revealed a T1200G (I400M) substitution in band 2. Login to comment
88 Female carriers are heterozygous for the T1200G (I400M) substitution (reveal both bands 1 and 2), while the affected male offspring (individuals II-1, III-3, III-8 and III-9) harbor the mutant ABC7 allele only. Login to comment
90 The first is the accumulation of mitochondrial iron in the bone marrow cells of patients with the I400M mutation in ABC7 and in the ∆atm1 yeast strain (6,7,18). Login to comment
5 An I400M variant was identified in a predicted transmembrane segment of the ABC7 gene in patients with XLSA/A. Login to comment
45 A sequence variant was detected (T1200G) that changes the amino acid sequence from Ile (ATT) to Met (ATG) at position 400 (I400M). Login to comment
50 Although we cannot completely rule out the possibility that this is a rare neutral variant, the I400M mutation was not detected in any of the 600 chromosomes from racially matched (European American) general population controls. Login to comment
51 To evaluate the functional consequences of the observed I400M substitution in the ABC7 protein, the corresponding V365M mutation was made in the yeast ATM1 gene. Login to comment
78 The location of the I400M missense mutation is shown above the sequence. Login to comment
89 DNA sequencing revealed a T1200G (I400M) substitution in band 2. Login to comment
92 The first is the accumulation of mitochondrial iron in the bone marrow cells of patients with the I400M mutation in ABC7 and in the ࢞atm1 yeast strain (6,7,18). Login to comment

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). Login to comment

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). Login to comment