IthaID: 872



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 22-26 (-12bp) HGVS Name: HBB:c.69_80delAGTTGGTGGTGA
Hb Name: Hb Olinda Protein Info: β 22(B4) - 25(B7) Glu-Val-Gly-Gly->0

Context nucleotide sequence:
CCTGTGGGGCAAGGTGAACGTGGATGA [-/GAAGTTGG] GGCCCTGGGCAGGTTGGTATCAAG (Strand: -)

Also known as:

Comments: Found as a de novo variant in a proband from the State of Pernambuco, NE Brazil. Substitutions at codons 23 and 24, which are inside the haemoglobin molecule, lead to the production of variants with altered stability and function, presenting with haemolytic anaemia. Reported in literature as HBB:c.67_78delGAAGTTGGTGGT, which does not follow the HGVS Sequence Variant Nomeclature guidelines.

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70663
Size: 12 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: Frameshift (Translation)
Ethnic Origin: Brazilian
Inheritance: Recessive
DNA Sequence Determined: No

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 2019-11-11 11:04:45 (Show full history)

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