ABCMdb

PMID: 10196363

Allikmets R, Raskind WH, Hutchinson A, Schueck ND, Dean M, Koeller DM
Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A).
Hum Mol Genet. 1999 May;8(5):743-9., [PubMed]

Sentences

No. Mutations Sentence Comment

4 ABCB7 p.Ile400Met An I400M variant was identified in a predicted transmembrane segment of the ABC7 gene in patients with XLSA/A. Login to comment 5 ABCB7 p.Ile400Met An I400M variant was identified in a predicted transmembrane segment of the ABC7 gene in patients with XLSA/A. Login to comment 43 ABCB7 p.Ile400Met 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 45 ABCB7 p.Ile400Met 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 ABCB7 p.Ile400Met 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 ABCB7 p.Ile400Met The I400M allele was also found in individuals III-4, II-3 and II-4. Login to comment 48 ABCB7 p.Ile400Met ABCB7 p.Ile400Met 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 ABCB7 p.Ile400Met ABCB7 p.Ile400Met 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 50 ABCB7 p.Ile400Met 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 ABCB7 p.Ile400Met 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 ABCB7 p.Ile400Met The location of the I400M missense mutation is shown above the sequence. Login to comment 78 ABCB7 p.Ile400Met The location of the I400M missense mutation is shown above the sequence. Login to comment 86 ABCB7 p.Ile400Met 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 ABCB7 p.Ile400Met DNA sequencing revealed a T1200G (I400M) substitution in band 2. Login to comment 88 ABCB7 p.Ile400Met ABCB7 p.Ile400Met 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 89 ABCB7 p.Ile400Met DNA sequencing revealed a T1200G (I400M) substitution in band 2. Login to comment 90 ABCB7 p.Ile400Met ABCB7 p.Ile400Met 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 92 ABCB7 p.Ile400Met 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