IthaID: 544
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 47 GAC>GGC [Asp>Gly] | HGVS Name: | HBA1:c.143A>G | HBA2:c.143A>G |
| Hb Name: | Hb Beilinson | Protein Info: | α2 or α1 47(CE5) Asp>Gly |
| Also known as: | Hb Kokura , Hb L-Gaslini , Hb Mugino , Hb Tagawa-II , Hb Umi , Hb Yukuhashi-II |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
ACCAAGACCTACTTCCCGCACTTCG [A/C/G] CCTGAGCCACGGCTCTGCCCAGGTT (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFGLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | α-chain variant |
| Allele Phenotype: | N/A |
| Stability: | Unstable |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 34035 or 37839 |
| Size: | 1 bp or 1 bp |
| Located at: | α1 or α2 |
| 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
- DEVRIES A, JOSHUA H, LEHMANN H, HILL RL, FELLOWS RE, THE FIRST OBSERVATION OF AN ABNORMAL HAEMOGLOBIN IN A JEWISH FAMILY: HAEMOGLOBIN BEILINSON., Br. J. Haematol. , 9(0), 484-6, 1963
- Ohba Y, Hattori Y, Matsuoka M, Miyaji T, Fuyuno K, HB Kokura [alpha 47 (CE 5) Asp leads to Gly]: a slightly unstable variant., Hemoglobin , 6(1), 69-74, 1982
Created on 2010-06-16 16:13:15,
Last reviewed on 2014-03-27 13:11:03 (Show full history)
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