IthaID: 1330


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: Init CD ATG>ATA [Met>Ile] HGVS Name: HBD:c.3G>A
Hb Name: N/A Protein Info: δ Initiation codon Met>Ile

Protein sequence:
IVHLTPEEKTAVNALWGKVNVDAVGGEALGRLLVVYPWTQRFFESFGDLSSPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFSQLSELHCDKLHVDPENFRLLGNVLVCVLARNFGKEFTPQMQAAYQKVVAGVANALAHKYH

Also known as:

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: 63185
Size: 1 bp
Located at: δ
Specific Location: Exon 1

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Initiation codon (Translation)
Ethnic Origin: Chinese
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Publications / Origin

  1. Frischknecht H, Troxler H, Dutly F, Walker L, Hohenadel BA, Eng B, Waye JS, Characterization of three novel delta chain hemoglobin variants and two delta-thalassemia alleles., Hemoglobin , 34(4), 374-82, 2010
  2. Liu N, Xie XM, Zhou JY, Li R, Liao C, Li DZ, Analysis of δ-globin gene mutations in the Chinese population., Hemoglobin , 37(1), 85-93, 2013
Created on 2010-06-16 16:13:17, Last reviewed on 2023-07-03 10:07:03 (Show full history)

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