IthaID: 467


Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Variant of Uncertain Significance
Common Name: CD 16 AAG>GAG [Lys>Glu] HGVS Name: HBA2:c.49A>G
Hb Name: HbI Protein Info: α2 16(A14) Lys>Glu

Context nucleotide sequence:
GACCAACGTCAAGGCCGCCTGGGGT [A/G] AGGTCGGCGCGCACGCTGGCGAGTA (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGEVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Also known as: Hb I-Burlington, Hb I-Philadelphia, Hb I-Skamania, Hb I-Texas

Comments: Hb I interferes with HbA1c measurement.

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

Location

Chromosome: 16
Locus: NG_000006.1
Locus Location: 33824
Size: 1 bp
Located at: α2
Specific Location: Exon 1

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Australian, Black, Caucasian, Indian, Japanese, Chinese
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

Publications / Origin

  1. Beale D, Lehmann H, Abnormal haemoglobins and the genetic code., Nature , 207(994), 259-61, 1965
  2. Esan GJ, Morgan FJ, O'Donnell JV, Ford S, Bank A, Diminished synthesis of an alpha chain mutant, hemoglobin I (alpha-16 lys leads to glu)., J. Clin. Invest. , 49(12), 2218-21, 1970
  3. Fleming PJ, Arnold BJ, Thompson EO, Hughes WG, Morgan L, Hb I alpha16 Lys leads to Glu and Hb Broussais alpha90 Lys leads to Asn in Australian families., Pathology , 10(4), 317-27, 1978
  4. Saito S, Fujita S, Ohta Y, Kobayashi Y, Hemoglobin I (alpha 16(A14) Lys replaced by Glu) and hemoglobin J Iran (beta 77(EF1) His replaced by Asp) discovered in Japanese., Hemoglobin , 6(5), 537-41, 1982
  5. Liebhaber SA, Rappaport EF, Cash FE, Ballas SK, Schwartz E, Surrey S, Hemoglobin I mutation encoded at both alpha-globin loci on the same chromosome: concerted evolution in the human genome., Science , 226(4681), 1449-51, 1984
  6. Molchanova TP, Pobedimskaya DD, Huisman TH, The differences in quantities of alpha 2- and alpha 1-globin gene variants in heterozygotes., Br. J. Haematol. , 88(2), 300-6, 1994
  7. Xu A, Sun J, Li J, Chen W, Zheng R, Han Z, Ji L, Hb I: A α-globin chain variant causing unexpected HbA results., J. Clin. Lab. Anal., 33(2), e22671, 2019
Created on 2010-06-16 16:13:15, Last reviewed on 2019-05-09 13:44:53 (Show full history)

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