IthaID: 418

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 142 (TAA>CAA) >172aa HGVS Name: HBA2:c.427T>C
Hb Name: Hb Constant Spring Protein Info: α2 142, Stop>Gln; modified C-terminal sequence: (142)Gln-Ala-Gly-Ala-Ser-Val-Ala-Val-Pro-Pro-Ala- Arg-Trp-Ala-Ser-Gln-Arg-Ala-Leu-Leu-Pro- Ser-Leu-His-Arg-Pro-Phe-Leu-Val-Phe-(172)Glu-COOH

Context nucleotide sequence:

Protein sequence:

Also known as:

Comments: Antitermination mutation (TAA>CAA) that permits ribosomes to read 31 codons into the 3'UTR. Loss of mRNA stability as a result of interfering with the pyrimidine-rich element (PRE) in the 3'UTR that provides the binding site for the α-globin poly(C)-binding protein (αCP). The heterozygote of Hb CS is mostly clinically and hematologically normal. The homozygote shows a clinical picture as thalassemia intermedia with mild anemia, jaundice and hepatosplenomegaly. Co-inheritance with an α0 allele leads to Hb H-CS disease which has a more severe phenotype (e.g. thalassemia intermedia and splenomegaly) than deletional Hb H disease.

We follow the HGVS sequence variant nomenclature and IUPAC standards.


Hemoglobinopathy Group: Thalassaemia and Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: α-thalassaemia, α-chain variant
Allele Phenotype:α⁺
Stability: Unstable
Oxygen Affinity: N/A
Associated Phenotypes: Haemolytic anaemia [HP:0001878]


Chromosome: 16
Locus: NG_000006.1
Locus Location: 34461
Size: 1 bp
Located at: α2
Specific Location: Exon 3

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: Southeast Asian
Molecular mechanism: Elongated globin
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Clegg JB, Weatherall DJ, Milner PF, Haemoglobin Constant Spring--a chain termination mutant?, Nature, 234(5328), 337-40, 1971 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2023-05-19 10:21:39 (Show full history)

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