IthaID: 348

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: -α3.7;CD 14 TGG>CGG HGVS Name: N/A
Hb Name: Hb Evanston Protein Info: N/A

Also known as:

Comments: The missense mutation HBA1:c.43T>C found in the context of a −α3.7 thalassaemia chromosome.

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links


Hemoglobinopathy Group: Thalassaemia and Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: α-thalassaemia, α-chain variant
Allele Phenotype:α0
Stability: N/A
Oxygen Affinity: N/A
Associated Phenotypes: Haemolytic anaemia [HP:0001878]


Chromosome: 16
Locus: NG_000006.1
Locus Location: N/A
Size: 1 bp
Located at: α3.7 hybrid
Specific Location: Exon 1

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: African, Asian
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Honig GR, Shamsuddin M, Vida LN, Mompoint M, Valcourt E, Bowie LJ, Jones EC, Powers PA, Spritz RA, Guis M, Hemoglobin Evanston (alpha 14 Trp----Arg). An unstable alpha-chain variant expressed as alpha-thalassemia., The Journal of clinical investigation, 73(6), 1740-9, 1984 PubMed
  2. Harteveld CL, Wijermans PW, de Ree JE, Ter Hal P, Van Delft P, Van Rooijen-Nijdam IH, Rasp E, Kok PJ, Souverijn JH, Versteegh FG, Giordano PC, A new Hb evanston allele [alpha14(A12)Trp --> Arg] found solely, and in the presence of common alpha-thalassemia deletions, in three independent Asian cases., Hemoglobin , 28(1), 1-5, 2004 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2021-11-04 11:47:34 (Show full history)

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