IthaID: 469
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Benign / Likely Benign |
|---|---|---|---|
| Common Name: | CD 16 AAG>ACG [Lys>Thr] | HGVS Name: | HBA2:c.50A>C |
| Hb Name: | Hb Boa Esperanca | Protein Info: | α2 16(A14) Lys>Thr |
Context nucleotide sequence:
ACCAACGTCAAGGCCGCCTGGGGTA [A/C/T] GGTCGGCGCGCACGCTGGCGAGTAT (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGTVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
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: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 33825 |
| Size: | 1 bp |
| Located at: | α2 |
| Specific Location: | Exon 1 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | Brazilian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
In silico pathogenicity prediction
Publications / Origin
- Jorge SE, Kimura EM, Oliveira DM, Ogo S, Albuquerque DM, Costa FF, Sonati Mde F, Three new alpha-globin variants: Hb Itapira [alpha30(B11)Glu-->Val (alpha1)], Hb Bom Jesus Da Lapa [alpha30(B11)Glu-->Ala (alpha1)] and Hb Boa Esperança [alpha16(A14)Lys-->Thr (alpha2)]., Hemoglobin , 31(2), 151-7, 2007
Created on 2010-06-16 16:13:15,
Last reviewed on 2014-03-12 17:17:21 (Show full history)
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