IthaID: 2991



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 108 ACC>AAC [Thr>Asn] HGVS Name: HBA1:c.326C>A
Hb Name: Hb Rogliano Protein Info: α1 108(G15) Thr>Asn

Context nucleotide sequence:
CTAAGCCACTGCCTGCTGGTGA [C>A] CCTGGCCGCCCACCTCCCCGCCGAGT (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVNLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Comments: Found as a heterozygote with mild α-thalassaemia phenotype, microcytosis and abnormal haemoglobin stability features. Hb Rogliano showed an intrinsic instability of the tetramer due to anomalous intra- and inter-chain interactions suggesting that the variant chain is normally synthesized and complexed with AHSP but rapidly degraded because it is unable to form the α1β1 dimers.

External Links

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 34360
Size: 1 bp
Located at: α1
Specific Location: Exon 3

Phenotype

Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: α-chain variant
Allele Phenotype:N/A
Stability: Hyperunstable
Oxygen Affinity: N/A
Associated Phenotypes: N/A

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Italian, Iranian
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Bisconte MG, Caldora M, Musollino G, Cardiero G, Flagiello A, La Porta G, Lagona L, Prezioso R, Qualtieri G, Gaudiano C, Medulla E, Merlino A, Pucci P, Lacerra G, α-Thalassemia associated with hb instability: a tale of two features. the case of Hb Rogliano or α1 Cod 108(G15)Thr→Asn and Hb Policoro or α2 Cod 124(H7)Ser→Pro., PLoS ONE , 10(3), e0115738, 2015 PubMed
  2. Farashi S, Vakili S, Garous NF, Ashki M, Forouzesh Pour F, Zeinali F, Rad F, Imanian H, Azarkeivan A, Najmabadi H, Identification of Mutations Causing Aberrant Termination and Deficient Splice Donor Site on the HBA1 Gene., Hemoglobin , 40(1), 38-43, 2016 PubMed
Created on 2016-08-23 17:44:35, Last reviewed on 2016-08-26 12:11:09 (Show full history)

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