IthaID: 776
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 140 TAC>CAC [Tyr>His] | HGVS Name: | NM_000558.5(HBA1):c.421T>C |
| Hb Name: | Hb Ethiopia | Protein Info: | α1 140(HC2) Tyr>His |
Context nucleotide sequence:
TGTGAGCACCGTGCTGACCTCCAAA [C/T] ACCGTTAAGCTGGAGCCTCGGTGGC (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKHR
Also known as:
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: | Increased Oxygen Affinity |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 38266 |
| Size: | 1 bp |
| Located at: | α1 |
| Specific Location: | Exon 3 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | Ethiopian, French |
| 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
- Webber BB, Wilson JB, Gu LH, Huisman TH, Hb Ethiopia or alpha 2(140)(HC2)Tyr----His beta 2., Hemoglobin , 16(5), 441-3, 1992 PubMed
- Wajcman H, Kister J, Marden M, Lahary A, Monconduit M, Galacteros F, Hemoglobin Rouen (alpha-140 (HC2) Tyr-->His): alteration of the alpha-chain C-terminal region and moderate increase in oxygen affinity., Biochim. Biophys. Acta , 1180(1), 53-7, 1992 PubMed
Created on 2010-06-16 16:13:16,
Last reviewed on 2024-04-12 11:13:19 (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 | 2014-04-15 12:54:04 | The IthaGenes Curation Team | Reviewed. Added common name, allele phenotype, references and ClinVar links. |
| 4 | 2024-02-13 12:18:30 | The IthaGenes Curation Team | Reviewed. ClinVar links corrected. |
| 5 | 2024-04-12 11:13:19 | The IthaGenes Curation Team | Reviewed. HGVS name, Protein name, Links, Chromosome and Locus location corrected. |
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IthaGenes was last updated on 2024-10-29 15:59:14