IthaID: 1354
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 12 AAT>AAA [Asn>Lys] | HGVS Name: | HBD:c.39T>A |
| Hb Name: | Hb A2-NYU | Protein Info: | δ 12(A9) Asn>Lys |
Context nucleotide sequence:
CTCCTGAGGAGAAGACTGCTGTCAA [A/T] GCCCTGTGGGGCAAAGTGAACGTGG (Strand: -)
Protein sequence:
MVHLTPEEKTAVKALWGKVNVDAVGGEALGRLLVVYPWTQRFFESFGDLSSPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFSQLSELHCDKLHVDPENFRLLGNVLVCVLARNFGKEFTPQMQAAYQKVVAGVANALAHKYH
Also known as:
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | δ-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: | 63221 |
| Size: | 1 bp |
| Located at: | δ |
| Specific Location: | Exon 1 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | Russian, Greek, Dutch, German |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Vella F, Wong SC, Wilson JB, Huisman TH, Hemoglobins A 2 -Sphakiá and A 2 -NYU in Canada., Canadian journal of biochemistry, 50(7), 841-3, 1972
- Zur B, Ludwig M, Stoffel-Wagner B, Hemoglobin Hasharon and hemoglobin NYU in subjects of German origin., Biochem Med (Zagreb), 21(3), 321-5, 2011
- Georgitsi M, Papachatzopoulou A, Linardaki E, Maroulis V, Papadakis MN, Patrinos GP, First report of Hb A2-NYU (HBD:c.39T>A) in the Hellenic population., Hemoglobin, 35(1), 91-5, 2011
Created on 2010-06-16 16:13:17,
Last reviewed on 2022-04-20 14:36:16 (Show full history)
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