IthaID: 1094
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 89 AGT>AGA or AGG [Ser>Arg] | HGVS Name: | HBB:c.270T>R |
| Hb Name: | Hb Vanderbilt | Protein Info: | β 89(F5) Ser>Arg |
Context nucleotide sequence:
AAGGGCACCTTTGCCACACTGAG [T>R] GAGCTGCACTGTGACAAGCTGCA (Strand: -)
Protein sequence:
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLRELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH
Also known as:
Comments: Replacement of serine with arginine at codon 89 leads to decreased sensitivity to 2,3-bisphosphoglyceric acid (2,3-BPG), possibly due to conformational change in its binding site, thereby increasing Hb affinity for oxygen.
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: | 70994 |
| Size: | 1 bp |
| Located at: | β |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | Caucasian, Polish |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Note:
The impact thresholds provided in this section are based on the analyses performed in Tamana et.al. For any given tool, the impact thresholds defined for the set of variants with the same effect on function as the variant examined, are preferred over those defined for the full dataset.
Sequence Viewer
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Publications / Origin
- Paniker NV, Lin KT, Krantz SB, Flexner JM, Wasserman BK, Puett D, Haemoglobin Vanderbilt (alpha2beta289Ser leads to Arg): a new haemoglobin with high oxygen affinity and compensatory erythrocytosis., British journal of haematology, 39(2), 249-58, 1978 PubMed
- Goodyer MJ, Elhassadi EI, Percy MJ, McMullin MF, A novel base change leading to Hb Vanderbilt [β89(F5)Ser→Arg, AGT>AGA]., Hemoglobin , 35(4), 428-9, 2011 PubMed
- Shomali W, Brar R, Arekapudi SR, Gotlib JR, A Kindred with a β-Globin Base Substitution [β89(F5)Ser→Arg (AG>AG); : c.270T>G] Resulting in Hemoglobin Vanderbilt., Hemoglobin, 43(0), 273-276, 2019 PubMed
Created on 2010-06-16 16:13:16,
Last reviewed on 2021-07-13 09:17:32 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2010-06-16 16:13:16 | The IthaGenes Curation Team | Created |
| 2 | 2013-10-15 17:00:14 | The IthaGenes Curation Team | Reviewed. |
| 3 | 2014-06-02 09:36:42 | The IthaGenes Curation Team | Reviewed. |
| 4 | 2020-01-31 12:39:45 | The IthaGenes Curation Team | Reviewed. Common and HGVS names updated. Comment and Reference added. |
| 5 | 2021-07-13 09:17:32 | The IthaGenes Curation Team | Reviewed. Common and HGVS name corrected. Origin added. |
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IthaGenes was last updated on 2023-03-22 16:46:31