IthaID: 246

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 123-125 (-ACCCCACC) >135aa HGVS Name: HBB:c.370_378delACCCCACCA
Hb Name: Hb Khon Kaen Protein Info: β 123 - 125 (-ACCCCACCA); modified C-terminal sequence: (123)Val-Gln-Ala-Ala-Tyr-Gln-Lys-Val-Val-Ala- Gly-Val-Ala-Asn-Ala-Leu-Ala-His-Lys-Tyr- (143)His-COOH

Context nucleotide sequence:

Also known as:

External Links


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]


Chromosome: 11
Locus: NG_000007.3
Locus Location: 71944
Size: 8 bp
Located at: β
Specific Location: Exon 3

Other details

Type of Mutation: Point-Mutation(Deletion)
Effect on Gene/Protein Function: Frameshift (Translation)
Ethnic Origin: Thai
Molecular mechanism: N/A
Inheritance: Dominant
DNA Sequence Determined: No

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Fucharoen G, Fuchareon S, Jetsrisuparb A, Fukumaki Y, Eight-base deletion in exon 3 of the beta-globin gene produced a novel variant (beta khon kaen) with an inclusion body beta-thalassemia trait., Blood, 78(2), 537-9, 1991 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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