IthaID: 1339


Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 98 (GTG>ATG) HGVS Name: HBD:c.295G>A
Hb Name: Hb A2-Wrens Protein Info: δ 98(FG5) Val>Met

Context nucleotide sequence:
TGAGCTGCACTGTGACAAGCTGCAC [A/G] TGGATCCTGAGAACTTCAGGGTGAG (Strand: -)

Protein sequence:
MVHLTPEEKTAVNALWGKVNVDAVGGEALGRLLVVYPWTQRFFESFGDLSSPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFSQLSELHCDKLHMDPENFRLLGNVLVCVLARNFGKEFTPQMQAAYQKVVAGVANALAHKYH

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 63605
Size: 1 bp
Located at: δ
Specific Location: Exon 2

Phenotype

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

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: N/A
Ethnic Origin: African, Chinese
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Publications / Origin

  1. Codrington JF, Kutlar F, Harris HF, Wilson JB, Stoming TA, Huisman TH, Hb A2-Wrens or alpha 2 delta 2 98(FG5) Val----Met, an unstable delta chain variant identified by sequence analysis of amplified DNA., Biochimica et biophysica acta, 1009(1), 87-9, 1989
  2. Liu N, Xie XM, Zhou JY, Li R, Liao C, Li DZ, Analysis of δ-globin gene mutations in the Chinese population., Hemoglobin , 37(1), 85-93, 2013
Created on 2010-06-16 16:13:17, Last reviewed on 2017-07-11 16:44:12 (Show full history)

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