ABCMdb

PMID: 20481466

Ye H, Rouault TA
Human iron-sulfur cluster assembly, cellular iron homeostasis, and disease.
Biochemistry. 2010 Jun 22;49(24):4945-56., [PubMed]

Sentences

No. Mutations Sentence Comment

136 ABCB7 p.Ala294Gly The patient has a homozygous A294G mutation in the third nucleotide of the last codon of GLRX5 exon 1. Login to comment 137 ABCB7 p.Ala294Gly The patient has a homozygous A294G mutation in the third nucleotide of the last codon of GLRX5 exon 1. Login to comment 193 ABCB7 p.Gly149Ala Additionally, the brothers have a novel G149A missense mutation in exon 3 that changes a highly conserved glycine residue to glutamate. Login to comment 194 ABCB7 p.Gly149Ala Additionally, the brothers have a novel G149A missense mutation in exon 3 that changes a highly conserved glycine residue to glutamate. Login to comment 227 ABCB7 p.Glu433Lys ABCB7 p.Glu433Lys In the second family, a single missense mutation is found in exon 10 of the ABCB7 gene in two affected brothers, and the mutation is a G-to-A transition at nucleotide 1305, resulting in a Glu-to-Lys substitution at residue 433 (E433K) in the putative sixth transmembrane domain of ABCB7 (72). Login to comment 228 ABCB7 p.Glu433Lys ABCB7 p.Glu433Lys ABCB7 p.Val411Leu In the third family, the affected brothers have a G-to-C transition at position 1299, which predicts a V411L substitution in the sixth putative transmembrane domain (86). Login to comment 229 ABCB7 p.Val411Leu In the third family, the affected brothers have a G-to-C transition at position 1299, which predicts a V411L substitution in the sixth putative transmembrane domain (86). Login to comment