IthaID: 3842


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD134 GTG>GAG [Val>Glu] HGVS Name: HBD:c.404T>A
Hb Name: N/A Protein Info: N/A

Context nucleotide sequence:
CAGGCTGCCTATCAGAAGGTGGT [T>A] GCTGGTGTGGCTAATGCCCTGGCT (Strand: -)

Protein sequence:
MVHLTPEEKTAVNALWGKVNVDAVGGEALGRLLVVYPWTQRFFESFGDLSSPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFSQLSELHCDKLHVDPENFRLLGNVLVCVLARNFGKEFTPQMQAAYQKVEAGVANALAHKYH

Also known as:

Comments: "Found as a heterozygote in a Chinese individual with normal hematological parameters except for the reduction in HbA2 level (Hb 132 g/L, MCV 87.7 fL, MCH 29.5 pg, RDW 11.9%, HbA2 1.2%, and SF 130.2 ng/mL). Variation is likely to cause δ+ or δ0 thalassemia."

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

No available links

Phenotype

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

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 64612
Size: 1 bp
Located at: δ
Specific Location: Exon 3

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
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 08:31:21, Last reviewed on (Show full history)

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