IthaID: 1359


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 24 GGT>GAT HGVS Name: HBD:c.74G>A
Hb Name: Hb A2-Victoria Protein Info: δ 24(B6) Gly>Asp

Context nucleotide sequence:
GGCAAAGTGAACGTGGATGCAGTTG [A/G] TGGTGAGGCCCTGGGCAGGTTGGTA (Strand: -)

Protein sequence:
MVHLTPEEKTAVNALWGKVNVDAVDGEALGRLLVVYPWTQRFFESFGDLSSPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFSQLSELHCDKLHVDPENFRLLGNVLVCVLARNFGKEFTPQMQAAYQKVVAGVANALAHKYH

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

Phenotype

Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: δ-chain variant
Allele Phenotype:N/A
Stability: N/A
Oxygen Affinity: N/A
Associated Phenotypes: N/A

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 63256
Size: 1 bp
Located at: δ
Specific Location: Exon 1

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: Iraqi
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

In silico pathogenicity prediction

Publications / Origin

  1. Brennan SO, Williamson D, Smith MB, Cauchi MN, Macphee A, Carrell RW, HbA2 Victoria delta 24 (B6) Gly----Asp. A new delta chain variant occurring with beta-thalassemia., Hemoglobin, 8(2), 163-8, 1984
Created on 2010-06-16 16:13:17, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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