IthaID: 248



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 125 (+CCA) HGVS Name: HBB:c.376_378dupCCA
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:
TTGGCAAAGAATTCACCCCACCA [-/CCA] GTGCAGGCTGCCTATCAGAAAGT (Strand: -)

Also known as:

Comments: Found in a heterozygous state in a young Armenian girl with a dominant type of beta-thal trait, characterized by a rather severe anemia (Hb 7-9 g/dl), hypochromia, target cells, basophilic stippling, and splenomegaly. Parents were unavailable for study.

External Links

Phenotype

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

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 71950
Size: 3 bp
Located at: β
Specific Location: Exon 3

Other details

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

Sequence Viewer

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Publications / Origin

  1. Cürük MA, Molchanova TP, Postnikov YuV , Pobedimskaya DD, Liang R, Baysal E, Kolodey S, Smetanina NS, Tokarev YuN , Rumyantsev AG, Beta-thalassemia alleles and unstable hemoglobin types among Russian pediatric patients., American journal of hematology, 46(4), 329-32, 1994 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2019-11-12 14:28:03 (Show full history)

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