IthaID: 3398
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Variant of Uncertain Significance |
|---|---|---|---|
| Common Name: | CD 146 CAC>AAC [His>Asn] | HGVS Name: | HBB:c.439C>A |
| Hb Name: | Hb Pusan | Protein Info: | β 146(HC3) His>Asn |
Context nucleotide sequence:
GGCTAATGCCCTGGCCCACAAGTAT [C/A] ACTAAGCTCGCTTTCTTGCTGTCCA (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYN
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: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 72013 |
| 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: | Korean |
| Molecular mechanism: | Mutated Bohr effect |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Yun YM, Ji M, Ko DH, Chun S, Kwon GC, Lee K, Song SH, Seong MW, Park SS, Song J, Hb variants in Korea: effect on HbA1c using five routine methods., Clin. Chem. Lab. Med., 55(8), 1234-1242, 2017
Created on 2019-04-11 16:17:40,
Last reviewed on (Show full history)
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