IthaID: 3406



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 69 GGT>GAT [Gly>Asp] HGVS Name: HBD:c.209G>A
Hb Name: Hb A2-Gebenstorf Protein Info: δ 69(E13) Gly>Asp

Context nucleotide sequence:
GGCTCATGGCAAGAAGGTGCTAG [G/A] TGCCTTTAGTGATGGCCTGGCT (Strand: -)

Protein sequence:
MVHLTPEEKTAVNALWGKVNVDAVGGEALGRLLVVYPWTQRFFESFGDLSSPDAVMGNPKVKAHGKKVLDAFSDGLAHLDNLKGTFSQLSELHCDKLHVDPENFRLLGNVLVCVLARNFGKEFTPQMQAAYQKVVAGVANALAHKYH

Also known as:

Comments: The δ-globin variant was found in a heterozygous state in a mother and her daughter of Swiss origin. The mother presented with normal blood counts and reduced HbA2 level (Hb 14.9 g/dL, MCV 89.9 fL, MCH 29.5 pg, HbA2 1.2%, HbF 0.5%). The daughter was also carrier of a deletional (εγ)δβ0-thal [ithaID=3606], presenting with a beta-thalassaemia minor phenotype (Hb 10.6 g/dL, MCV 61.0 fL, MCH 18.2 pg, HbA2 0%, HbF 0.7%). Variant was detected by HPLC; it is expected to move faster than HbA2 and thus to co-migrate with HbA.

External Links

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: 63519
Size: 1 bp
Located at: δ
Specific Location: Exon 2

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Swiss
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

Sequence Viewer

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Publications / Origin

  1. Saller E, Knijnenburg J, Harteveld CL, Dutly F, A Woman with Missing Hb A Due to a Novel (εγ)δβ-Thalassemia and a Novel δ-Globin Variant Hb A-Gebenstorf (: c.209G>A)., Hemoglobin, 44(3), 214-217, 2020 PubMed
Created on 2019-04-12 13:48:54, Last reviewed on 2020-08-06 16:38:37 (Show full history)

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