IthaID: 3870



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 62 GCT>CCT [Ala>Pro] HGVS Name: HBD:c.187G>C
Hb Name: N/A Protein Info: δ 62(E6) Ala>Pro

Context nucleotide sequence:
GGGCAACCCTAAGGTGAAG [G/C] CTCATGGCAAGAAGGTGCT (Strand: -)

Protein sequence:
MVHLTPEEKTAVNALWGKVNVDAVGGEALGRLLVVYPWTQRFFESFGDLSSPDAVMGNPKVKPHGKKVLGAFSDGLAHLDNLKGTFSQLSELHCDKLHVDPENFRLLGNVLVCVLARNFGKEFTPQMQAAYQKVVAGVANALAHKYH

Also known as:

Comments: Found in a 65-year-old female in a Tunisian study of δ-thalassaemia. Crystallographic structure analysis demonstrated that the Ala62Pro variant probably leads to a significant conformational change that affects the secondary structure of the delta subunit. In fact, the Ala62 is the 6th amino acid is involved in the formation of the 5th α-helix and its change to proline would destabilize the conserved structure of the 5th α-helix.

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: 63497
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: Tunisian
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

Sequence Viewer

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Publications / Origin

  1. Kasmi C, Amri Y, Hadj-Fredj S, Oueslati S, Dabboussi M, Mahjoub R, Hammami S, Aljane I, Mami FB, Jamoussi H, Messaoud T, Bibi A, Analysis of δ-globin gene alleles in Tunisians: description of three new delta-thalassemia mutations., Mol Biol Rep, 48(8), 5923-5933, 2021 PubMed
Created on 2021-10-12 12:56:13, Last reviewed on 2021-12-29 15:21:14 (Show full history)

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