IthaID: 467
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Benign / Likely Benign |
|---|---|---|---|
| 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.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
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 |
In silico pathogenicity prediction
Publications / Origin
- Beale D, Lehmann H, Abnormal haemoglobins and the genetic code., Nature , 207(994), 259-61, 1965
- 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
- 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
- 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
- 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
- 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
- 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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