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:
CACCAAGACCTACTTCCCGCACTTC [G/A] ACCTGAGCCACGGCTCTGCCCAGGT (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFNLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as:

External Links

Phenotype

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

Location

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)

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