IthaID: 783
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 141 CGT>CAT [Arg>His] | HGVS Name: | NM_000558.3(HBA1):c.425G>A |
| Hb Name: | Hb Suresnes | Protein Info: | α1 141(HC3) Arg>His |
Context nucleotide sequence:
AGCACCGTGCTGACCTCCAAATACC [G/A] TTAAGCTGGAGCCTCGGTGGCCATG (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYH
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: | 38270 |
| 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: | African, 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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In such a case, please Refresh the page or retry at a later stage.
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Publications / Origin
- Poyart C, Krishnamoorthy R, Bursaux E, Gacon G, Labie D, Structural and functional studies of haemoglobin Suresnes or alpha2 141 (HC3) Arg replaced by His beta2, a new high oxygen affinity mutant., FEBS Lett. , 69(1), 103-7, 1976 PubMed
- Gravely ME, Harris HF, Stallings M, Lam H, Wilson JB, Huisman TH, Hb Suresnes or alpha2 141(HC3) ArgyieldHis beta2 in a black family., Hemoglobin , 2(2), 187-9, 1978 PubMed
- Poyart C, Bursaux E, Arnone A, Bonaventura J, Bonaventura C, Structural and functional studies of hemoglobin Suresnes (arg 141 alpha 2 replaced by His beta 2). Consequences of disrupting an oxygen-linked anion-binding site., J. Biol. Chem. , 255(19), 9465-73, 1980 PubMed
Created on 2010-06-16 16:13:16,
Last reviewed on 2024-04-12 11:51:06 (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 15:40:13 | The IthaGenes Curation Team | Reviewed. Added common name, allele phenotype, references and ClinVar link. |
| 4 | 2024-04-12 11:51:06 | The IthaGenes Curation Team | Reviewed. HGVS name, Links, Chromosome and Locus location corrected. |
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IthaGenes was last updated on 2024-11-20 13:24:07