IthaID: 1357


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 20 GTG>GAG HGVS Name: HBD:c.62T>A
Hb Name: Hb A2-Roosevelt Protein Info: δ 20(B2) Val>Glu

Context nucleotide sequence:
AATGCCCTGTGGGGCAAAGTGAACG [A/T] GGATGCAGTTGGTGGTGAGGCCCTG (Strand: -)

Protein sequence:
MVHLTPEEKTAVNALWGKVNEDAVGGEALGRLLVVYPWTQRFFESFGDLSSPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFSQLSELHCDKLHVDPENFRLLGNVLVCVLARNFGKEFTPQMQAAYQKVVAGVANALAHKYH

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: 63244
Size: 1 bp
Located at: δ
Specific Location: Exon 1

Other details

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

Publications / Origin

  1. Rieder RF, Clegg JB, Weiss HJ, Christy NP, Rabinowitz R, Hemoglobin A2-Roosevelt: alpha 2 delta 2 20Val replaced by Glu., Biochimica et biophysica acta, 439(2), 501-4, 1976
Created on 2010-06-16 16:13:17, Last reviewed on 2013-10-15 17:00:14 (Show full history)

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