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:
CTACCCTTGGACCCAGAGGTTCTTT [A/G] AGTCCTTTGGGGATCTGTCCTCTCC (Strand: -)

Protein sequence:
MVHLTPEEKTAVNALWGKVNVDAVGGEALGRLLVVYPWTQRFFKSFGDLSSPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFSQLSELHCDKLHVDPENFRLLGNVLVCVLARNFGKEFTPQMQAAYQKVVAGVANALAHKYH

Also known as:

Phenotype

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

Location

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

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
  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
  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
  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
Created on 2010-06-16 16:13:17, Last reviewed on 2020-03-04 15:23:28 (Show full history)

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