IthaID: 709
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 112 CAC>CGC [His>Arg] | HGVS Name: | HBA1:c.338A>G | HBA2:c.338A>G |
| Hb Name: | Hb Strumica | Protein Info: | α2 or α1 112(G19) His>Arg |
| Also known as: | Hb Serbia |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
TGCCTGCTGGTGACCCTGGCCGCCC [A/G] CCTCCCCGCCGAGTTCACCCCTGCG (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAARLPAEFTPAVHASLDKFLASVSTVLTSKYR
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | α-chain variant |
| Allele Phenotype: | N/A |
| Stability: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | Haemolytic anaemia [HP:0001878] |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 34372 or 38183 |
| Size: | 1 bp or 1 bp |
| Located at: | α1 or α2 |
| Specific Location: | Exon 3 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | Macedonian, Serbian, Turkish |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
In silico pathogenicity prediction
Publications / Origin
- Niazi GA, Efremov GD, Nikolov N, Hunter E, Huisman TH, Hemoglobin-Strumica or alpha 2 112(G19) His replaced by Arg beta 2. (With an addendum: hemoglobin-J-Paris-I, alpha 2 12(A10) Ala replaced by Asp beta 2, in the same population)., Biochim. Biophys. Acta , 412(1), 181-6, 1975
- Beksedić D, Rajevska T, Hb Serbia (alpha 112 (G19) His leads to Arg), a new haemoglobin variant from Yugoslavia., FEBS Lett. , 58(1), 226-9, 1975
Created on 2010-06-16 16:13:16,
Last reviewed on 2024-02-13 12:12:06 (Show full history)
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