IthaID: 3325



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 144 AAG>AGG [Lys>Arg] HGVS Name: HBB:c.434A>G
Hb Name: Hb Heze Protein Info: β144(HC1)Lys>Arg

Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHRYH

Comments: The mutation associates with a mild β-thal phenotype in the heterozygote state, but leads to a β-thal intermedia (β-TI) phenotype when interacting with β0-thal. The lysine at β144 is located at the HC1 position, in the central pocket near to the C-terminal of the β-globin chain.

External Links

No available links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 72008
Size: 1 bp
Located at: β
Specific Location: Exon 3

Phenotype

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

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Chinese
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Li Y, Yan JM, Zhou JY, Lu YC, Li DZ, Combination of Hb Heze [β144(HC1)Lys→Arg; HBB: c.434A>G] and β-Thalassemia in a Chinese Patient with β-Thalassemia Intermedia., Hemoglobin , 41(1), 47-49, 2017 PubMed
Created on 2018-03-05 18:24:44, Last reviewed on (Show full history)

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