IthaID: 447

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 6 GAC>GGC [Asp>Gly] HGVS Name: HBA2:c.20A>G
Hb Name: Hb Swan River Protein Info: α2 6(A4) Asp>Gly

Context nucleotide sequence:

Protein sequence:

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.


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: 33795
Size: 1 bp
Located at: α2
Specific Location: Exon 1

Other details

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

In silico pathogenicity prediction

Sequence Viewer

Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI. Therefore, IthaGenes has no responsibility over any temporary unavailability of the service. In such a case, please Refresh the page or retry at a later stage. Otherwise, use this external link.

Publications / Origin

  1. Moo-Penn WF, Jue DL, Johnson MH, Therrell BL, Hemoglobin Swan River [alpha 6(A4)Asp----Gly]., Hemoglobin , 11(1), 61-2, 1987 PubMed
  2. Como PF, Wilkinson T, Kronenberg H, Raven JL, Prior J, Trent RJ, Hb Swan River [alpha 6(A4) Asp----Gly] initial identification in an Australian family., Hemoglobin , 13(4), 393-6, 1989 PubMed
  3. Harano T, Harano K, Imai K, Terunuma S, HB Swan River [alpha 6(A4)ASP-->Gly] observed in a Japanese man., Hemoglobin , 20(1), 75-8, 1996 PubMed
  4. Henderson SJ, Timbs AT, McCarthy J, Gallienne AE, Proven M, Rugless MJ, Lopez H, Eglinton J, Dziedzic D, Beardsall M, Khalil MS, Old JM, Ten Years of Routine α- and β-Globin Gene Sequencing in UK Hemoglobinopathy Referrals Reveals 60 Novel Mutations., Hemoglobin , 40(2), 75-84, 2016 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2021-04-07 09:28:50 (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.