IthaID: 1364

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 43 GAG>AAG HGVS Name: HBD:c.130G>A
Hb Name: Hb A2-Melbourne Protein Info: δ 43(CD2) Glu>Lys

Context nucleotide sequence:

Protein sequence:

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.


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


Chromosome: 11
Locus: NG_000007.3
Locus Location: 63440
Size: 1 bp
Located at: δ
Specific Location: Exon 2

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: Italian, Laotian, Thai
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: No

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. Sharma RS, Harding DL, Wong SC, Wilson JB, Gravely ME, Huisman TH, A new delta chain variant, haemoglobin-A2-Melbourne or alpha2 delta2 43Glu-Lys(CD2)., Biochimica et biophysica acta, 359(2), 233-5, 1974 PubMed
  2. Chaibunruang A, Fucharoen G, Fucharoen S, First description of a Hb A2 variant in Thailand. Identification of Hb A2-Melbourne [δ43(CD2)Glu→Lys] in Thai individuals., Hemoglobin, 36(1), 80-4, 2012 PubMed
  3. Panyasai S, Fucharoen G, Fucharoen S, Known and new hemoglobin A2 variants in Thailand and implication for β-thalassemia screening., Clin. Chim. Acta , 438(0), 226-30, 2015 PubMed
  4. Jomoui W, Panichchob P, Rujirachaivej P, Panyasai S, Tepakhan W, Coinheritance of Hb A-Melbourne (: c.130G>A) and Hb E (: c.79G>A) in Laos and Simultaneous High Resolution Melt Detection of Hb A-Melbourne and Hb A-Lampang (: c.142G>A) in a Single Tube., Hemoglobin, 43(3), 214-217, 2019 PubMed
Created on 2010-06-16 16:13:17, Last reviewed on 2020-03-04 15:23:28 (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.