IthaID: 466
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | cd 15 GGT>GAT [Gly>Asp] | HGVS Name: | HBA1:c.47G>A |
| Hb Name: | Hb I-Interlaken | Protein Info: | α1 15(A13) Gly>Asp |
Context nucleotide sequence:
AAGACCAACGTCAAGGCCGCCTGGG [A/G] TAAGGTCGGCGCGCACGCTGGCGAG (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWDKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
Also known as: Hb J-Oxford , Hb N-Cosenza
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: | 37626 |
| Size: | 1 bp |
| Located at: | α1 |
| Specific Location: | Exon 1 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | English, Italian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
HPLC
Disclaimer: The HPLC images are provided as an information resource only.
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D-10™ and VARIANT™ are registered trademarks of Bio-Rad Laboratories, Inc. and used with permission.
Redistribution and use of the above material is allowed only with permission by Bio-Rad Laboratories, Inc.
To access HPLC images and reports for different variants, use the IthaChrom tool.
| ID | Hb Variant | Gene | Instrument | Method | Area (%) | Ret Time (min) | Comments | ||
|---|---|---|---|---|---|---|---|---|---|
| 2 | Hb I-Interlaken | α1 | VARIANT | β-thal Short Program | 24.9 | 1.62 | Heterozygous | [PDF] | |
| 3 | Hb I-Interlaken | α1 | D-10 | Dual Kit Program | 24.5 | 1.45 | Heterozygous | [PDF] | |
| 4 | Hb I-Interlaken | α1 | VARIANT II | β-thal Short Program | 24.8 | 1.63 | Heterozygous | [PDF] | |
| 5 | Hb I-Interlaken | α1 | VARIANT II | Dual Kit Program | 24.3 | 1.56 | Heterozygous |
In silico pathogenicity prediction
Publications / Origin
- Schiliro G, Musumeci S, Pizzarelli G, Russo A, Marinucci M, Bruni E, Russo G, A new alkali-resistant hemoglobin alpha2J Oxford gammaF2 in a Sicilian baby girl with homozygous beta0 thalassemia., Blood , 48(5), 639-51, 1976
- Schiliro G, Rizzari C, Testa R, Lo Faro F, Comisi FF, Russo A, Association of Hb S [beta 6(A3)Glu----Val] and Hb I-interlaken [alpha 15(A13)Gly----Asp] in a Sicilian man; review of the occurrence of Hb I-interlaken in Sicily., Hemoglobin , 13(4), 403-10, 1989
- 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 16:13:15,
Last reviewed on 2014-03-12 16:50:06 (Show full history)
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