IthaID: 3844



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 87 CAG>TAG [Gln>STOP] HGVS Name: HBD:c.262C>T
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:
GGACAACCTCAAGGGCACTTTTTCT [C>T] AGCTGAGTGAGCTGCACTGTGACAA (Strand: -)

Protein sequence:
MVHLTPEEKTAVNALWGKVNVDAVGGEALGRLLVVYPWTQRFFESFGDLSSPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFSX

Also known as:

Comments: Variation causes a premature stop of δ-globin synthesis at codon 87 and might cause δ0 thalassemia. Compound heterozygosity with δ -77 T>C presented with a reduction in HbA2 levels (Hb 128 g/L, MCV 91.1 fL, MCH 30.7 pg, RDW 13.6%, HbA2 1.3%, and SF 64.79 ng/mL).

External Links

Phenotype

Hemoglobinopathy Group: Thalassaemia
Hemoglobinopathy Subgroup: δ-thalassaemia
Allele Phenotype:δ0
Associated Phenotypes: N/A

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 63572
Size: 1 bp
Located at: δ
Specific Location: Exon 2

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Nonsense codon (Translation)
Ethnic Origin: Chinese
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.

Publications / Origin

  1. Chen M, Huang H, Chen L, Lin N, Zhang M, Lin Y, Xu L, First report of the spectrum of δ-globin gene mutations among women of reproductive age in Fujian area-Discrimination of δ-thalassemia, α-thalassemia, and Iron Deficiency Anemia., J Clin Lab Anal, 34(11), e23479, 2020 PubMed
Created on 2021-08-18 09:16:40, Last reviewed on (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.