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IthaID: 1332



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 27 GCC>TCC [Ala>Ser] HGVS Name: HBD:c.82G>T
Hb Name: Hb A2-Yialousa Protein Info: δ 27(B9) Ala>Ser

Context nucleotide sequence:
GAACGTGGATGCAGTTGGTGGTGAG [G/T] CCCTGGGCAGGTTGGTATCAAGGTT (Strand: -)

Protein sequence:
MVHLTPEEKTAVNALWGKVNVDAVGGESLGRLLVVYPWTQRFFESFGDLSSPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFSQLSELHCDKLHVDPENFRLLGNVLVCVLARNFGKEFTPQMQAAYQKVVAGVANALAHKYH

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

External Links

HbVar ClinVar
dbSNP OMIM
SwissVar

Phenotype

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

IthaPhen

Heterozygous records (preview in IthaPhen)

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 63264
Size: 1 bp
Located at: δ
Specific Location: Exon 1

Other details

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

In silico pathogenicity prediction

Sequence Viewer

Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI. Therefore, IthaGenes has no responsibility over any temporary unavailability of the service. In such a case, please Refresh the page or retry at a later stage. Otherwise, use this external link.

Frequencies

Publications / Origin

  1. Moi P, Paglietti E, Sanna A, Brancati C, Tagarelli A, Galanello R, Cao A, Pirastu M, Delineation of the molecular basis of delta- and normal HbA2 beta-thalassemia., Blood, 72(2), 530-3, 1988 PubMed
  2. Loudianos G, Cao A, Ristaldi MS, Pirastu M, Tzeti M, Kannavakis E, Kattamis C, Molecular basis of delta beta-thalassemia with normal fetal hemoglobin level., Blood , 75(2), 526-8, 1990 PubMed
  3. Trifillis P, Ioannou P, Schwartz E, Surrey S, Identification of four novel delta-globin gene mutations in Greek Cypriots using polymerase chain reaction and automated fluorescence-based DNA sequence analysis., Blood, 78(12), 3298-305, 1991 PubMed
  4. Trifillis P, Kyrri A, Kalogirou E, Kokkofitou A, Ioannou P, Schwartz E, Surrey S, Analysis of delta-globin gene mutations in Greek cypriots., Blood, 82(5), 1647-51, 1993 PubMed
  5. De Angioletti M, Lacerra G, Gaudiano C, Mastrolonardo G, Pagano L, Mastrullo L, Masciandaro S, Carestia C, Epidemiology of the delta globin alleles in southern Italy shows complex molecular, genetic, and phenotypic features., Human mutation, 20(5), 358-67, 2002 PubMed
  6. 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 PubMed
  7. 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 2010-06-16 16:13:17, Last reviewed on 2021-12-29 15:11:08 (Show full history)

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IthaGenes was last updated on 2024-11-20 13:24:07