IthaID: 3617



Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 5 CCT>ACT [Pro>Thr] HGVS Name: HBD:c.16C>A
Hb Name: HbA2-Partinico Protein Info: δ 5(A2)Pro>Thr

Context nucleotide sequence:
AGACACCATGGTGCATCTGACT [C>A] CTGAGGAGAAGACTGCTGTCAA (Strand: -)

Protein sequence:
MVHLTTEEKTAVNALWGKVNVDAVGGEALGRLLVVYPWTQRFFESFGDLSSPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFSQLSELHCDKLHVDPENFRLLGNVLVCVLARNFGKEFTPQMQAAYQKVVAGVANALAHKYH

Also known as:

Comments: Found in cis to the allele β+ thal IVS-I-110 G>A in five members of a Sicilian family. Detected by HPLC; overlaps HbA2 peak which is partially split. The residue 5(A2) of the δ-globin chain is in the alpha helix region; no functional alteration was predicted.

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: 63198
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

Sequence Viewer

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Publications / Origin

  1. Lacerra G, Scarano C, Musollino G, Testa R, Prezioso R, Caruso DG, Lagona LF, Medulla E, Friscia MG, Gaudiano C, Carestia C, HbA2-Partinico or delta(A2)Pro-->Thr, a new genetic variation in the delta-globin gene in cis to the beta(+) thal IVS-I-110 G>A, and the heterogeneity of delta-globin alleles in double heterozygotes for beta- and delta-globin gene defects., Ann. Hematol., 89(2), 127-34, 2010 PubMed
Created on 2020-09-07 14:40:21, Last reviewed on (Show full history)

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