IthaID: 125


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 30/31 +CGG [+Arg] HGVS Name: HBB:c.93_94insCGG
Hb Name: N/A Protein Info: Arg- inserted between codons 30(B12) and 31(B13) of β

Context nucleotide sequence:
ATTGGTCTATTTTCCCACCCTTAGG [-/CGG] CTGCTGGTGGTCTACCCTTGGACCC (Strand: -)

Also known as:

Phenotype

Hemoglobinopathy Group: Thalassaemia and Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: β-thalassaemia, β-chain variant
Allele Phenotype:β0
Dominant
Stability: Unstable
Oxygen Affinity: N/A
Associated Phenotypes: Haemolytic anaemia [HP:0001878]
Ineffective erythropoiesis [HP:0010972]

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 70817
Size: 3 bp
Located at: β
Specific Location: Exon 2

Other details

Type of Mutation: Point-Mutation(Insertion)
Effect on Gene/Protein Function: Insertion/Deletion of codons (Protein Structure)
Ethnic Origin: Spanish
Molecular mechanism: N/A
Inheritance: Dominant
DNA Sequence Determined: No

Publications / Origin

  1. Arjona SN, Eloy-Garcia JM, Gu LH, Smetanina NS, Huisman TH, The dominant beta-thalassaemia in a Spanish family is due to a frameshift that introduces an extra CGG codon ( = arginine) at the 5' end of the second exon., British journal of haematology, 93(4), 841-4, 1996
Created on 2010-06-16 16:13:14, Last reviewed on 2014-06-04 13:19:49 (Show full history)

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