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).

We follow the HGVS sequence variant nomenclature and IUPAC standards.

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

In silico pathogenicity prediction

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
Created on 2021-08-18 09:16:40, Last reviewed on (Show full history)

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