IthaID: 1279
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 139 AAT>TAT [Asn>Tyr]; CD 138 (-GCT) [-Ala] | HGVS Name: | HBB:c.[418A>T;415_417delGCT] |
| Hb Name: | Hb Nijkerk | Protein Info: | β 139(H17) Asn>Tyr AND β 138(H16) Ala->0 |
Context nucleotide sequence:
TCAGAAAGTGGTGGCTGGTGTGGCT [A/G/T] ATGCCCTGGCCCACAAGTATCACTA (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVAYALAHKYH
Also known as: Hb Nykerk
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: | 71992 |
| 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: | Dutch |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- van den Berg HM, Bruin MC, Batelaan D, van Delft P, van Zwieten R, Roos D, Harteveld CL, Bernini LF, Giordano PC, Hb Nijkerk: a new mutation at codons 138/139 of the beta-globin gene inducing severe hemolytic anemia in a Dutch girl., Hemoglobin , 23(2), 135-44, 1999
Created on 2010-06-16 16:13:17,
Last reviewed on 2014-04-15 19:09:44 (Show full history)
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