IthaID: 446


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Pathogenic / Likely Pathogenic
Common Name: CD 6 -GAC [-Asp] HGVS Name: HBA1:c.19_21delGAC | HBA2:c.19_21delGAC
Hb Name: Hb Boyle Heights Protein Info: α1 or α2 6(A4) Asp->0

Context nucleotide sequence:
ACCCACCATGGTGCTGTCTCCTGCC [-/GAC] AAGACCAACGTCAAGGCCGCCTGGG (Strand: +)

Also known as:

External Links

Phenotype

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

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 33794 or 37598
Size: 3 bp or 3 bp
Located at: α1 or α2
Specific Location: Exon 1

Other details

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

Publications / Origin

  1. Johnson CS, Schroeder WA, Shelton JB, Shelton JR, The first example of a deletion in the human alpha chain: hemoglobin Boyle Heights or alpha 2 6 (A4) Asp----to O beta 2., Hemoglobin , 7(2), 125-40, 1983
  2. Zhao W, Wilson JB, Huisman TH, Low quantities of Hb Boyle Heights or alpha 2(6)(A4)Asp----O beta 2 observed in three members of a Caucasian family., Hemoglobin , 14(6), 637-40, 1990
Created on 2010-06-16 16:13:15, Last reviewed on 2014-03-12 15:49:13 (Show full history)

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