IthaID: 745

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 127 AAG>AAT or AAC [Lys>Asn] HGVS Name: HBA1:c.384G>C | HBA1:c.384G>T | HBA2:c.384G>C | HBA2:c.384G>T
Hb Name: Hb Jackson Protein Info: α2 or α1 127(H10) Lys>Asn

Context nucleotide sequence:

Protein sequence:

Also known as:


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


Chromosome: 16
Locus: NG_000006.1
Locus Location: 34418 or 38229
Size: 1 bp or 1 bp
Located at: α1 or α2
Specific Location: Exon 3

Other details

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

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Moo-Penn WF, Bechtel KC, Johnson MH, Jue DL, Holland S, Huff C, Schmidt RM, Hemoglobin Jackson, alpha 127 (H10) Lys replaced by Asn., Am. J. Clin. Pathol. , 66(2), 453-6, 1976 PubMed
  2. Lam H, Webber BB, Wilson JB, Huisman TH, Identification of the alpha chain abnormal hemoglobin Jackson (alpha 127 Lys leads to Asn) after isolation of the core peptide by high-performance liquid chromatography., J. Chromatogr. , 269(2), 119-22, 1983 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2014-04-15 09:52:38 (Show full history)

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