IthaID: 660
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 90 AAG>ATG [Lys>Met] | HGVS Name: | HBA1:c.272A>T | HBA2:c.272A>T |
| Hb Name: | Hb Handa | Protein Info: | α2 or α1 90(FG2) Lys>Met |
Context nucleotide sequence:
GCCCTGAGCGACCTGCACGCGCACA [A/T] GCTTCGGGTGGACCCGGTCAACTTC (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHMLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
Also known as: Hb Munakata
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: | 34164 or 37968 |
| Size: | 1 bp or 1 bp |
| Located at: | α1 or α2 |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | Japanese |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
In silico pathogenicity prediction
Publications / Origin
- Harano T, Harano K, Shibata S, Ueda S, Imai K, Seki M, HB Handa [alpha 90 (FG 2) Lys replaced by Met]: structure and biosynthesis of a new slightly higher oxygen affinity variant., Hemoglobin , 6(4), 379-89, 1982
- Sugihara J, Imamura T, Kagimoto M, Matsuo T, Yamada H, Imoto T, Yanase T, A new electrophoretic variant of hemoglobin (Munakata) in which a lysine residue is replaced by a methionine residue at position 90 of the alpha-chain., Biochim. Biophys. Acta , 744(1), 119-20, 1983
- Hidaka K, Iuchi I, Shimasaki S, Mizuta W, Takatsuka M, Mori T, Tohdoh A, Matsuo M, The survey of abnormal hemoglobins in the Kobe district: Hb G-Coushatta [beta 22(B4)Glu----Ala], Hb Ankara (beta 10(A7)Ala----Asp], Hb Handa [alpha 90(FG2)Lys----Met], and Hb J-Habana [alpha 71(E20)Ala----Glu]., Hemoglobin, 10(1), 65-72, 1986
Created on 2010-06-16 16:13:16,
Last reviewed on 2024-02-13 12:06:48 (Show full history)
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