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
Note:
The impact thresholds provided in this section are based on the analyses performed in Tamana et.al. For any given tool, the impact thresholds defined for the set of variants with the same effect on function as the variant examined, are preferred over those defined for the full dataset.
Sequence Viewer
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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 PubMed
- 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 PubMed
- 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 PubMed
Created on 2010-06-16 16:13:16,
Last reviewed on 2024-02-13 12:06:48 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2010-06-16 16:13:16 | The IthaGenes Curation Team | Created |
| 2 | 2013-10-15 17:00:14 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2014-04-14 10:33:50 | The IthaGenes Curation Team | Reviewed. Added references, ClinVar links, synonym and common name. |
| 4 | 2024-02-13 12:06:18 | The IthaGenes Curation Team | Reviewed. ClinVar link corrected. |
| 5 | 2024-02-13 12:06:48 | The IthaGenes Curation Team | Reviewed. Allele corrected. |
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IthaGenes was last updated on 2024-11-20 13:24:07