IthaID: 2492
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Variant of Uncertain Significance |
|---|---|---|---|
| Common Name: | CD 12 ACT>CCT [Thr>Pro] | HGVS Name: | HBB:c.37A>C |
| Hb Name: | Hb Ashburton | Protein Info: | β 12(A9) Thr>Pro |
Context nucleotide sequence:
GACTCCTGAGGAGAAGTCTGCCGTT [A/C] CTGCCCTGTGGGGCAAGGTGAACGT (Strand: -)
Also known as: Hb Feilding
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | β-chain variant |
| Allele Phenotype: | N/A |
| Stability: | Unstable |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 70631 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 1 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | N/A |
| Molecular mechanism: | Altered secondary structure |
| 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, Povall A, Lankes U, Hb Ashburton [β12(A9)Thr → Pro; HBB: c.37A > C], a novel, mildly unstable variant and the first substitution identified at codon 12., Hemoglobin , 38(2), 79-83, 2014 PubMed
- Ghallyan N, Donald T, Broad D, Johnson S, Browett P, Van de Water N, Hb Feilding [β12(A9)Thr → Pro; HBB: c.37A>C]: a novel unstable β-globin chain variant., Hemoglobin , 39(1), 49-51, 2015 PubMed
Created on 2014-06-04 17:16:10,
Last reviewed on 2017-01-17 10:45:54 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2014-06-04 17:16:10 | The IthaGenes Curation Team | Created |
| 2 | 2015-01-08 17:31:49 | The IthaGenes Curation Team | Reviewed. Context sequence added. |
| 3 | 2015-12-03 11:41:02 | The IthaGenes Curation Team | Reviewed. Reference and synonym added. |
| 4 | 2017-01-17 10:45:54 | The IthaGenes Curation Team | Reviewed. HbVar link added. |
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IthaGenes was last updated on 2024-11-20 13:24:07