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
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
- 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
Created on 2010-06-16 16:13:16,
Last reviewed on 2014-04-14 11:23:21 (Show full history)
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