IthaID: 447
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 6 GAC>GGC [Asp>Gly] | HGVS Name: | HBA2:c.20A>G |
| Hb Name: | Hb Swan River | Protein Info: | α2 6(A4) Asp>Gly |
Context nucleotide sequence:
CCCACCATGGTGCTGTCTCCTGCCG [A/G] CAAGACCAACGTCAAGGCCGCCTGG (Strand: +)
Protein sequence:
MVLSPAGKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
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: | Unstable |
| Oxygen Affinity: | N/A |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 33795 |
| Size: | 1 bp |
| Located at: | α2 |
| Specific Location: | Exon 1 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | Caucasian, Japanese, Yugoslavian, British |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Moo-Penn WF, Jue DL, Johnson MH, Therrell BL, Hemoglobin Swan River [alpha 6(A4)Asp----Gly]., Hemoglobin , 11(1), 61-2, 1987
- Como PF, Wilkinson T, Kronenberg H, Raven JL, Prior J, Trent RJ, Hb Swan River [alpha 6(A4) Asp----Gly] initial identification in an Australian family., Hemoglobin , 13(4), 393-6, 1989
- Harano T, Harano K, Imai K, Terunuma S, HB Swan River [alpha 6(A4)ASP-->Gly] observed in a Japanese man., Hemoglobin , 20(1), 75-8, 1996
- Henderson SJ, Timbs AT, McCarthy J, Gallienne AE, Proven M, Rugless MJ, Lopez H, Eglinton J, Dziedzic D, Beardsall M, Khalil MS, Old JM, Ten Years of Routine α- and β-Globin Gene Sequencing in UK Hemoglobinopathy Referrals Reveals 60 Novel Mutations., Hemoglobin , 40(2), 75-84, 2016
Created on 2010-06-16 16:13:15,
Last reviewed on 2021-04-07 09:28:50 (Show full history)
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