IthaID: 665
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 91 CTT>TTT [Leu>Phe] | HGVS Name: | HBA1:c.274C>T |
| Hb Name: | Hb Vientiane | Protein Info: | α1 91(FG3) Leu>Phe |
Context nucleotide sequence:
CCTGAGCGACCTGCACGCGCACAAG [C/T] TTCGGGTGGACCCGGTCAACTTCAA (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKFRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
Also known as: Hb Grey Lynn
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: | 37970 |
| Size: | 1 bp |
| Located at: | α1 |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | Laotian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
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
- Brennan SO, Chan T, Sheen C, Novel hemoglobin (Hb Grey Lynn) substitution (alpha91Leu --> Phe) affects heme interactions and alpha1beta2 contacts., Clin. Chem. , 53(5), 990-1, 2007 PubMed
- Singha K, Fucharoen G, Fucharoen S, Interaction of hemoglobin Grey Lynn (Vientiane) with a non-deletional α(+)-thalassemia in an adult Thai proband., Biochem Med (Zagreb) , 24(1), 167-74, 2014 PubMed
Created on 2010-06-16 16:13:16,
Last reviewed on 2014-04-14 11:23:21 (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 11:23:21 | The IthaGenes Curation Team | Reviewed. Added references, common name and synonym. |
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IthaGenes was last updated on 2024-11-20 13:24:07