RGD Reference Report - Band 3 Chur: a variant associated with band 3-deficient hereditary spherocytosis and substitution in a highly conserved position of transmembrane segment 11. - Rat Genome Database

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Band 3 Chur: a variant associated with band 3-deficient hereditary spherocytosis and substitution in a highly conserved position of transmembrane segment 11.

Authors: Maillet, P  Vallier, A  Reinhart, WH  Wyss, EJ  Ott, P  Texier, P  Baklouti, F  Tanner, MJ  Delaunay, J  Alloisio, N 
Citation: Maillet P, etal., Br J Haematol. 1995 Dec;91(4):804-10.
RGD ID: 10450491
Pubmed: (View Article at PubMed) PMID:8547122

We studied a large Swiss family with dominantly inherited hereditary spherocytosis and band 3 (anion exchanger 1, AE1) deficiency. Band 3 cDNA was analysed by single-strand conformation polymorphism analysis and nucleotide sequencing. A new point mutation was found: G771D (GGC-->GAC). This change was present in all eight investigated patients but absent in four healthy members of the family. It is located at a highly conserved position in the middle of transmembrane segment 11, introducing a negative charge in a stretch of 16 apolar or neutral residues. None of the six amino-acid substitutions already known in this region as being associated with band 3 deficiency were recorded. To rule out any major transcriptional or post-transcriptional defect, we evaluated the amount of band 3 mRNA by RNase mapping using a band 3-protein 4.1 chimaeric probe. Similar mRNA amounts were present in patients and controls. Our results strengthen the view that some amino-acids, that are well conserved throughout the AE family, may be crucial for the insertion and/or the stabilization of band 3 within the lipid bilayer. At the present time, most of the mutations altering such residues are located in the C-terminal region of band 3.

Annotation

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Phenotype Annotations    

Human Phenotype
Objects Annotated

Genes (Rattus norvegicus)
Slc4a1  (solute carrier family 4 member 1 (Diego blood group))

Genes (Mus musculus)
Slc4a1  (solute carrier family 4 (anion exchanger), member 1)

Genes (Homo sapiens)
SLC4A1  (solute carrier family 4 member 1 (Diego blood group))


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