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 |
| Also known as: |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
TTCGGGTGGACCCGGTCAACTTCAA [G>C] GTGAGCGGCGGGCCGGGAGCGATCT (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFNLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
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.
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
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)
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