IthaID: 4116
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 99 AAG>AAC [Lys>Asn] | HGVS Name: | HBA1:c.300G>C |
| Hb Name: | Hb Fulton | Protein Info: | N/A |
Context nucleotide sequence:
TTCGGGTGGACCCGGTCAACTTCAA [G>C] GTGAGCGGCGGGCCGGGAGCGATCT (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFNLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
Also known as:
Comments: The c.300G>C variant (p.Val71Glu) is a missense change in the HBA1 gene, identified in a Chinese proband as a homozygote with normal hematological indices. Capillary electrophoresis revealed an abnormal hemoglobin profile.
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available links
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: | 37996 |
| Size: | 1 bp |
| Located at: | α1 |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | Chinese |
| Molecular mechanism: | N/A |
| 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
- Tan L, Huang T, Luo L, Ma P, Liu J, Zou J, Lu Q, Zou Y, Liu Y, Luo H, Yang B, Molecular Identification and the Hematological Findings of Four Novel Variants in Globin Genes in Jiangxi Province of Southern China., Hemoglobin, 2024 PubMed
Created on 2024-12-11 15:43:49,
Last reviewed on 2024-12-11 15:46:04 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2024-12-11 15:43:49 | The IthaGenes Curation Team | Created |
| 2 | 2024-12-11 15:44:45 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2024-12-11 15:45:32 | The IthaGenes Curation Team | Reviewed. |
| 4 | 2024-12-11 15:46:04 | The IthaGenes Curation Team | Reviewed. |
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IthaGenes was last updated on 2024-12-12 10:33:52