IthaID: 542

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 47 GAC>AAC [Asp>Asn] HGVS Name: HBA1:c.142G>A
Hb Name: Hb Arya Protein Info: α1 47(CE5) Asp>Asn

Context nucleotide sequence:

Protein sequence:

Also known as:

External Links


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


Chromosome: 16
Locus: NG_000006.1
Locus Location: 37838
Size: 1 bp
Located at: α1
Specific Location: Exon 2

Other details

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

Publications / Origin

  1. Rahbar S, Mahdavi N, Nowzari G, Mostafavi I, Haemoglobin Arya: alpha 2-47 (CD5), aspartic acid yields asparagine., Biochim. Biophys. Acta , 386(2), 525-9, 1975
  2. Pécriaux A, Paillard C, Galoisy A, Riou J, Le Metayer N, Wajcman H, Pissard S, Evidence for a gene conversion in a Hb Arya Carrier [α codon 47 Asp>Asn, Hb A1(or Hb A2):c.142 G>A]., Int J Lab Hematol, 39(3), e55-e59, 2017
Created on 2010-06-16 16:13:15, Last reviewed on 2021-04-07 10:29:21 (Show full history)

Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.