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.

External Links

Phenotype

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]

Location

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

Sequence Viewer

Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI. Therefore, IthaGenes has no responsibility over any temporary unavailability of the service. In such a case, please Refresh the page or retry at a later stage. Otherwise, use this external link.

Frequencies

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)

Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.