IthaID: 1283
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Variant of Uncertain Significance |
|---|---|---|---|
| Common Name: | CD 140 GCC>GAC [Ala>Asp] | HGVS Name: | HBB:c.422C>A |
| Hb Name: | Hb Himeji | Protein Info: | β 140(H18) Ala>Asp |
Context nucleotide sequence:
AAAGTGGTGGCTGGTGTGGCTAATG [C>A] CCTGGCCCACAAGTATCACTAAGCT (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANDLAHKYH
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: | Increased Oxygen Affinity |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 71996 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 3 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | Japanese | Portuguese |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
In silico pathogenicity prediction
Publications / Origin
- Ohba Y, Miyaji T, Murakami M, Kadowaki S, Fujita T, Oimomi M, Hatanaka H, Ishikawa K, Baba S, Hitaka K, Hb Himeji or beta 140 (H18) Ala----Asp. A slightly unstable hemoglobin with increased beta N-terminal glycation., Hemoglobin, 10(2), 109-25, 1986
- Guedes V, Bettencourt-Silva R, Queirós J, Esteves MDL, Teles MJ, Carvalho D, Hemoglobin Himeji and inconsistent hemoglobin A1c values: a case report., J Med Case Rep, 11(1), 201, 2017
Created on 2010-06-16 16:13:17,
Last reviewed on 2023-04-10 15:39:58 (Show full history)
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