IthaID: 548
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Benign / Likely Benign |
|---|---|---|---|
| Common Name: | CD 49 AGC>AGA or AGG [Ser>Arg] | HGVS Name: | HBA2:c.150C>A |HBA2:c.150C>G |
| Hb Name: | Hb Savaria | Protein Info: | α2 49(CE7) Ser>Arg |
Context nucleotide sequence:
CCTACTTCCCGCACTTCGACCTGAG [A/C/G] CACGGCTCTGCCCAGGTTAAGGGCC (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLRHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
Also known as:
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | α-chain variant |
| Allele Phenotype: | N/A |
| Stability: | N/A |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 34042 |
| Size: | 1 bp |
| Located at: | α2 |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | American, Hungarian, Kenyan, Yugoslavian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Szelényi JG, Horányi M, Földi J, Hudacsek J, István L, Hollán SR, A new hemoblogin variant in hungary: Hb Savaria - alpha 49 (CE7) Ser replace by Arg., Hemoglobin , 4(1), 27-38, 1980
- Juricić D, Efremov GD, Wilson JB, Huisman TH, Hb Savaria or alpha(2)49(CE7)Ser----Arg beta 2 in a Yugoslavian family., Hemoglobin , 9(6), 631-3, 1985
- Zhang H, Li C, Li J, Hou S, Chen D, Yan H, Chen S, Liu S, Yin Z, Yang X, Tan J, Huang X, Zhang L, Fang J, Zhang C, Li W, Guo J, Lei D, Next-generation sequencing improves molecular epidemiological characterization of thalassemia in Chenzhou Region, P.R. China., J Clin Lab Anal, 33(4), e22845, 2019
Created on 2010-06-16 16:13:15,
Last reviewed on 2021-01-30 12:37:13 (Show full history)
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