IthaID: 1197
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Variant of Uncertain Significance |
|---|---|---|---|
| Common Name: | CD 116 CAT>CCT [His>Pro] | HGVS Name: | HBB:c.350A>C |
| Hb Name: | Hb Miami | Protein Info: | β 116(G18) His>Pro |
Context nucleotide sequence:
AACGTGCTGGTCTGTGTGCTGGCCC [A/C/G/T] TCACTTTGGCAAAGAATTCACCCCA (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAPHFGKEFTPPVQAAYQKVVAGVANALAHKYH
Also known as:
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: | Haemolytic anaemia [HP:0001878] |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 71924 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 3 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | Brazilian |
| Molecular mechanism: | Altered secondary structure |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
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
- Hoyer JD, Baxter JK, Moran AM, Kubic KS, Ehmann WC, Two unstable beta chain variants associated with beta-thalassemia: Hb Miami [beta116(G18)his-->Pro], and Hb Hershey [beta70(E14)Ala-->Gly], and a second unstable Hb variant at 170: Hb Abington [beta70(E14)Ala-->Pro]., Hemoglobin , 29(4), 241-8, 2005 PubMed
Created on 2010-06-16 16:13:17,
Last reviewed on 2014-04-15 17:40:07 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2010-06-16 16:13:17 | The IthaGenes Curation Team | Created |
| 2 | 2013-10-15 17:00:14 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2014-04-15 17:40:07 | The IthaGenes Curation Team | Reviewed. Added reference. |
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IthaGenes was last updated on 2024-11-20 13:24:07