ABCMdb

PMID: 11843825

Maguire A, Hellier K, Hammans S, May A
X-linked cerebellar ataxia and sideroblastic anaemia associated with a missense mutation in the ABC7 gene predicting V411L.
Br J Haematol. 2001 Dec;115(4):910-7., [PubMed]

Sentences

No. Mutations Sentence Comment

0 ABCB7 p.Val411Leu 910 q 2001 Blackwell Science Ltd X-linked cerebellar ataxia and sideroblastic anaemia associated with a missense mutation in the ABC7 gene predicting V411L Andrew Maguire,1 Kate Hellier,2 Simon Hammans2 and Alison May1 1 Department of Haematology, University of Wales College of Medicine, Cardiff, and 2 Wessex Neurological Centre, Southampton General Hospital, Southampton, UK Received 7 February 2001; accepted for publication 16 May 2001 Summary. Login to comment 9 ABCB7 p.Val411Leu This predicts a V411L substitution at the beginning of the last of six putative transmembrane regions of the protein. Login to comment 109 ABCB7 p.Val411Leu Identification of a novel family specific mutation A family specific missense mutation, G1299C in the cDNA, predicting an amino acid residue change from valine to leucine (V411L), was found. Login to comment 134 ABCB7 p.Val411Leu In our family we demonstrated a third mutation (cDNA: G1299C predicting V411L) in exon 9 of the ABC7 transporter gene, further strengthening the link between ABC7 and XLSA/A. Login to comment 137 ABCB7 p.Glu433Lys ABCB7 p.Ile400Met 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