IthaID: 745



Names and Sequences

Functionality: Globin gene causative mutation
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:
CTGCGGTGCACGCCTCCCTGGACAA [C/G/T] TTCCTGGCTTCTGTGAGCACCGTGC (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDNFLASVSTVLTSKYR

Location

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

Phenotype

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

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: African
Inheritance: Recessive
DNA Sequence Determined: No
Detection Methods: Direct DNA sequencing

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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