IthaID: 1393


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 142 GCT>GAT [Ala>Asp] HGVS Name: HBD:c.428C>A
Hb Name: Hb A2-Fitzroy Protein Info: δ 142(H20) Ala>Asp

Context nucleotide sequence:
GTGGCTGGTGTGGCTAATGCCCTGG [A/C] TCACAAGTACCATTGAGATCCTGGA (Strand: -)

Protein sequence:
MVHLTPEEKTAVNALWGKVNVDAVGGEALGRLLVVYPWTQRFFESFGDLSSPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFSQLSELHCDKLHVDPENFRLLGNVLVCVLARNFGKEFTPQMQAAYQKVVAGVANALDHKYH

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: 64636
Size: 1 bp
Located at: δ
Specific Location: Exon 3

Other details

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

Publications / Origin

  1. Williamson D, Brennan SO, Strosberg H, Whitty J, Carrell RW, Hemoglobin A2 Fitzroy delta 142 Ala----Asp: a new delta-chain variant., Hemoglobin, 8(4), 325-32, 1984
Created on 2010-06-16 16:13:17, Last reviewed on 2014-08-22 09:35:12 (Show full history)

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