IthaID: 872



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 22-25 (-12bp) HGVS Name: HBB:c.67_78delGAAGTTGGTGGT
Hb Name: Hb Olinda Protein Info: β 22(B4) - 25(B7) Glu-Val-Gly-Gly->0

Context nucleotide sequence:
CCTGTGGGGCAAGGTGAACGTGGAT [-/GAAGTTGG] GAGGCCCTGGGCAGGTTGGTATCAA (Strand: -)

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70661
Size: 1 bp
Located at: β
Specific Location: Exon 1

Phenotype

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

Other details

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

Sequence Viewer

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Publications / Origin

  1. Bezerra MA, Albuquerque DM, Santos MN, Kimura EM, Jorge SE, Oliveira DM, Domingues BL, Peres JC, Araújo AS, Costa FF, Sonati MF, Two new unstable haemoglobins leading to chronic haemolytic anaemia: Hb Caruaru [beta122 (GH5) Phe-->Ser], a probable case of germ line mutation, and Hb Olinda [beta22 (B4) - 25 (B7)], a deletion of a 12 base-pair sequence., European journal of haematology, 83(4), 378-82, 2009 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2014-01-10 11:22:50 (Show full history)

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