IthaID: 1351


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 7 GAG>GCG [Glu>Ala] HGVS Name: HBD:c.23A>C
Hb Name: Hb A2-Udine Protein Info: δ 7(A4) Glu>Ala

Context nucleotide sequence:
ACCATGGTGCATCTGACTCCTGAGG [A/C] GAAGACTGCTGTCAATGCCCTGTGG (Strand: -)

Protein sequence:
MVHLTPEAKTAVNALWGKVNVDAVGGEALGRLLVVYPWTQRFFESFGDLSSPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFSQLSELHCDKLHVDPENFRLLGNVLVCVLARNFGKEFTPQMQAAYQKVVAGVANALAHKYH

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.

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: 63205
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: Italian
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Publications / Origin

  1. Mahmud N, Maffei M, Mogni M, Forni GL, Pinto VM, Barberio G, Ungari S, Maffè A, Curcio C, Zanolli F, Paventa R, Carta M, Caleffi A, Mercadanti M, Maoggi S, Ivaldi G, Coviello D, Hemoglobin A and Heterogeneous Diagnostic Relevance Observed in Eight New Variants of the Delta Globin Gene., Genes (Basel), 12(11), 0, 2021
Created on 2010-06-16 16:13:17, Last reviewed on 2023-03-13 16:45:40 (Show full history)

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