IthaID: 2386
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Benign / Likely Benign |
|---|---|---|---|
| Common Name: | CD 13 GCC>ACC [Ala>Thr] | HGVS Name: | HBA1:c.40G>A |
| Hb Name: | Hb Olivet | Protein Info: | α1 13(A11) Ala>Thr |
Context nucleotide sequence:
TGCCGACAAGACCAACGTCAAGGCC [A/C/G] CCTGGGGTAAGGTCGGCGCGCACGC (Strand: +)
Protein sequence:
MVLSPADKTNVKATWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
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: | Silent Hb |
| Stability: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 37619 |
| Size: | 1 bp |
| Located at: | α1 |
| Specific Location: | Exon 1 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | French-Portuguese, Surinamese-Hindustani |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Harteveld CL, Pissard S, Korver AM, Riou J, Legac E, Lansbergen G, Pardijs IL, Giordano PC, Versteegh FG, Hb Olivet (HBA1: C.40G > A; p.Ala14Thr), a Novel Silent Hemoglobin Variant in Two Families of Distinct Origin., Hemoglobin , 40(5), 349-352, 2016
Created on 2014-05-26 11:00:15,
Last reviewed on 2017-02-14 10:17:27 (Show full history)
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