IthaID: 1349
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 2 CAT>CGT | HGVS Name: | HBD:c.8A>G |
| Hb Name: | Hb A2-Sphakiá | Protein Info: | δ 2(NA2) His>Arg |
Context nucleotide sequence:
CAACCTCAAACAGACACCATGGTGC [A/G/T] TCTGACTCCTGAGGAGAAGACTGCT (Strand: -)
Protein sequence:
MVRLTPEEKTAVNALWGKVNVDAVGGEALGRLLVVYPWTQRFFESFGDLSSPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFSQLSELHCDKLHVDPENFRLLGNVLVCVLARNFGKEFTPQMQAAYQKVVAGVANALAHKYH
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: | 63190 |
| Size: | 1 bp |
| Located at: | δ |
| Specific Location: | Exon 1 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | Mediterranean |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
In silico pathogenicity prediction
Publications / Origin
- Jones RT, Brimhall B, Huehns ER, Barnicot NA, Hemoglobin Sphakiá: a delta-chain variant of hemoglobin A2 from Crete., Science (New York, N.Y.), 151(716), 1406-8, 1966
Created on 2010-06-16 16:13:17,
Last reviewed on 2013-10-15 17:00:14 (Show full history)
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