IthaID: 718
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 116 GAG>CAG [Glu>Gln] | HGVS Name: | HBA1:c.349G>C | HBA2:c.349G>C |
| Hb Name: | Hb Oleander | Protein Info: | α2 or α1 116(GH4) Glu>Gln |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
GACCCTGGCCGCCCACCTCCCCGCC [A/C/G] AGTTCACCCCTGCGGTGCACGCCTC (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAQFTPAVHASLDKFLASVSTVLTSKYR
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: | 34383 or 38194 |
| Size: | 1 bp or 1 bp |
| Located at: | α1 or α2 |
| Specific Location: | Exon 3 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | African |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
In silico pathogenicity prediction
Publications / Origin
- Schneider RG, Hightower B, Carpentieri U, Duerst ML, Shih T, Jones RT, Hemoglobin Oleander [alpha 116(GH4)Glu replaced by Gln beta 2]: structural and functional characterization., Hemoglobin , 6(5), 465-80, 1982
Created on 2010-06-16 16:13:16,
Last reviewed on 2014-04-14 17:30:02 (Show full history)
Disclaimer: The information on this website is provided as an information resource only
and must not to be used as a substitute for professional diagnosis and treatment.
The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment,
diagnosis or any other information, services or products that an individual obtains through this website.