IthaID: 675
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 94 GAC>CAC [Asp>His] | HGVS Name: | HBA2:c.283G>C |
| Hb Name: | Hb Sunshine Seth | Protein Info: | α2 94(G1) Asp>His |
Context nucleotide sequence:
CCTGCACGCGCACAAGCTTCGGGTG [A/C/G/T] ACCCGGTCAACTTCAAGGTGAGCGG (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVHPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
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: | Decreased Oxygen Affinity |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 16 |
|---|---|
| Locus: | NG_000006.1 |
| Locus Location: | 34175 |
| 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: | Caucasian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
HPLC
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To access HPLC images and reports for different variants, use the IthaChrom tool.
| ID | Hb Variant | Gene | Instrument | Method | Area (%) | Ret Time (min) | Comments | ||
|---|---|---|---|---|---|---|---|---|---|
| 331 | Hb Sunshine Seth | α2 | D-10 | Dual Kit Program | 14.8 | 4.43 | heterozygote | [PDF] | |
| 332 | Hb Sunshine Seth | α2 | VARIANT | β-thal Short Program | 18.8 | 4.71 | heterozygote | [PDF] | |
| 333 | Hb Sunshine Seth | α2 | VARIANT II | β-thal Short Program | 16 | 4.79 | heterozygote | [PDF] | |
| 334 | Hb Sunshine Seth | α2 | VARIANT II | Dual Kit Program | 15.2 | 3.956 | heterozygote | [PDF] |
In silico pathogenicity prediction
Publications / Origin
- Schroeder WA, Shelton JB, Shelton JR, Powars D, Hemoglobin Sunshine Seth - alpha 2 (94 (G1) Asp replaced by His) beta 2., Hemoglobin , 3(2), 145-59, 1979
- Molchanova TP, Pobedimskaya DD, Huisman TH, The differences in quantities of alpha 2- and alpha 1-globin gene variants in heterozygotes., Br. J. Haematol. , 88(2), 300-6, 1994
Created on 2010-06-16 16:13:16,
Last reviewed on 2014-04-14 12:48:52 (Show full history)
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