IthaID: 1151
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Variant of Uncertain Significance |
|---|---|---|---|
| Common Name: | CD 102 AAC>CAC [Asn>His] | HGVS Name: | HBB:c.307A>C |
| Hb Name: | Hb Canebiere | Protein Info: | β 102(G4) Asn>His |
Context nucleotide sequence:
TGACAAGCTGCACGTGGATCCTGAG [A/C/T] ACTTCAGGGTGAGTCTATGGGACGC (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPEHFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH
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: | Decreased Oxygen Affinity |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 71031 |
| 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: | North African |
| Molecular mechanism: | Altered α1β1 interface |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
In silico pathogenicity prediction
Publications / Origin
- Thuret I, Mely L, Kister J, Kiger L, Merono F, Badier M, Badens C, Association of HbS and a new low oxygen affinity variant, Hb Canebière, [beta102(G4)Asn->Lys] in a healthy child., Haematologica, 89(9), ECR31, 2004
- Froelund U, Sandbakken E, Szecsi P, Birgens H, Further studies on Hb Canebière [β12(G4)Asn→His], a low affinity hemoglobin variant., Hemoglobin , 34(5), 495-9, 2010
Created on 2010-06-16 16:13:16,
Last reviewed on 2014-06-04 09:26:44 (Show full history)
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