IthaID: 1299
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 143 CAC>CGC | HGVS Name: | HBB:c.431A>G |
| Hb Name: | Hb Abruzzo | Protein Info: | β 143(H21) His>Arg |
Context nucleotide sequence:
GCTGGTGTGGCTAATGCCCTGGCCC [A/C/G/T] CAAGTATCACTAAGCTCGCTTTCTT (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALARKYH
Also known as:
We follow the HGVS sequence variant nomenclature and IUPAC standards.
Phenotype
| Hemoglobinopathy Group: | Structural Haemoglobinopathy |
|---|---|
| Hemoglobinopathy Subgroup: | β-chain variant |
| Allele Phenotype: | N/A |
| Stability: | N/A |
| Oxygen Affinity: | Increased Oxygen Affinity |
| Associated Phenotypes: | N/A |
Location
| Chromosome: | 11 |
|---|---|
| Locus: | NG_000007.3 |
| Locus Location: | 72005 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 3 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | N/A |
| Ethnic Origin: | American | Italian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
HPLC
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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 | ||
|---|---|---|---|---|---|---|---|---|---|
| 438 | Hb Abruzzo | β | D-10 | Dual Kit Program | 46.1 | 2.72 | Hb with increased oxygen affinity. | [PDF] | |
| 439 | Hb Abruzzo | β | VARIANT II | β-thal Short Program | 42 | 3.39 | Hb with increased oxygen affinity. | [PDF] | |
| 440 | Hb Abruzzo | β | VARIANT II | Dual Kit Program | 38.8 | 2.836 | Hb with increased oxygen affinity. | [PDF] |
In silico pathogenicity prediction
Publications / Origin
- Tentori L, Carta SORCINI M, Buccella C, Hemoglobin Abruzzo: beta 143 (H 21) His leads to Arg., Clinica chimica acta; international journal of clinical chemistry, 38(1), 258-62, 1972
Created on 2010-06-16 16:13:17,
Last reviewed on 2013-10-15 17:00:14 (Show full history)
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