
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 |
Context nucleotide sequence:
TGCCTGCTGGTGACCCTGGCCGCCC [A/G] CCTCCCCGCCGAGTTCACCCCTGCG (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAARLPAEFTPAVHASLDKFLASVSTVLTSKYR
Also known as: Hb Serbia
Phenotype
Hemoglobinopathy Group: | Structural Haemoglobinopathy |
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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) |
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Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
Ethnic Origin: | Macedonian, Serbian, Turkish |
Molecular mechanism: | N/A |
Inheritance: | Recessive |
DNA Sequence Determined: | No |
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 2014-04-14 16:55:37 (Show full history)
A/A | Date | Curator(s) | Comments |
---|---|---|---|
1 | 2010-06-16 16:13:16 | The IthaGenes Curation Team | Created |
2 | 2013-10-15 17:00:14 | The IthaGenes Curation Team | Reviewed. |
3 | 2014-04-14 16:55:37 | The IthaGenes Curation Team | Reviewed. Added common name, references and ClinVar link. |
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IthaGenes was last updated on 2022-08-17 10:24:39