IthaID: 945



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 42 (-TTT) HGVS Name: HBB:c.127_129delTTT
Hb Name: Hb Bruxelles Protein Info: N/A

Context nucleotide sequence:
GGTCTACCCTTGGACCCAGAGGTTC [-/TTT] GAGTCCTTTGGGGATCTGTCCA (Strand: -)

Also known as:

Comments: Reported in a 4-year-old girl with severe chronic hemolytic anaemia and cyanosis. Abnormal haemoglobin variant by IEF and RP-HPLC. Peptide consisted of two phenylalanine residues instead of three in normal β chains (codons 41, 42, and 45). Sequence analysis showed that the β42 residue is missing. Unstable variant by isopropanol stability test. Low oxygen affinity (P50= 41 mmHg).

Phenotype

Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: β-chain variant
Allele Phenotype:N/A
Stability: Unstable
Oxygen Affinity: Decreased Oxygen Affinity
Associated Phenotypes: N/A

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70851
Size: 3 bp
Located at: β
Specific Location: Exon 2

Other details

Type of Mutation: Point-Mutation(Deletion)
Effect on Gene/Protein Function: Insertion/Deletion of codons (Protein Structure)
Ethnic Origin: Belgian
Molecular mechanism: Altered heme pocket
Inheritance: Recessive
DNA Sequence Determined: Yes

Sequence Viewer

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Publications / Origin

  1. Blouquit Y, Bardakdjian J, Lena-Russo D, Arous N, Perrimond H, Orsini A, Rosa J, Galacteros F, Hb Bruxelles: alpha 2A beta (2)41 or 42(C7 or CD1)Phe deleted., Hemoglobin, 13(5), 465-74, 1989 PubMed
  2. Griffon N, Badens C, Lena-Russo D, Kister J, Bardakdjian J, Wajcman H, Marden MC, Poyart C, Hb Bruxelles, deletion of Phebeta42, shows a low oxygen affinity and low cooperativity of ligand binding., J. Biol. Chem., 271(42), 25916-20, 1996 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2020-07-01 11:54:50 (Show full history)

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