IthaID: 945



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 41 (-TTC) or CD 42 (-TTT) HGVS Name: HBB:c.124_126delTTC | HBB:c.127_129delTTT
Hb Name: Hb Bruxelles Protein Info: β 41(C7) Phe->0 OR β 42(CD1) Phe->0

Context nucleotide sequence:
GGTGGTCTACCCTTGGACCCAGAGG [-/TTC/TTCT] TTTGAGTCCTTTGGGGATCTGTCCA (Strand: -)

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70848
Size: 1 bp
Located at: β
Specific Location: Exon 2

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

Other details

Type of Mutation: Point-Mutation(Deletion)
Effect on Gene/Protein Function: Insertion/Deletion of codons (Protein Structure)
Ethnic Origin: Belgian
Inheritance: Recessive
DNA Sequence Determined: No
Detection Methods: MLPA

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
Created on 2010-06-16 16:13:16, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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