IthaID: 1046
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Variant of Uncertain Significance |
|---|---|---|---|
| Common Name: | CD 74 GGC>CGC [Gly>Arg] | HGVS Name: | HBB:c.223G>C |
| Hb Name: | Hb Aalborg | Protein Info: | β 74(E18) Gly>Arg |
Context nucleotide sequence:
GAAAGTGCTCGGTGCCTTTAGTGAT [A/C/G] GCCTGGCTCACCTGGACAACCTCAA (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDRLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH
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: | 70947 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | Japanese |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
In silico pathogenicity prediction
Publications / Origin
- Williamson D, Nutkins J, Rosthoj S, Brennan SO, Williams DH, Carrell RW, Characterization of Hb Aalborg, a new unstable hemoglobin variant, by fast atom bombardment mass spectrometry., Hemoglobin , 14(2), 137-45, 1990
- Takamura K, Komori T, Hashino Y, Suzuki T, Shiwaku A, Kikuchi H, Yamamoto M, Yamauchi H, Yamashiro Y, A Case of Hb Aalborg (: c.223G>C) with Chronic Obstructive Pulmonary Disease: A First Familial Presentation in Japan., Hemoglobin, 45(2), 129-132, 2021
Created on 2010-06-16 16:13:16,
Last reviewed on 2021-09-29 12:35:41 (Show full history)
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