IthaID: 691
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 99 AAG>AAT [Lys>Asn] | HGVS Name: | HBA1:c.300G>T |
| Hb Name: | Hb Beziers | Protein Info: | α1 99(G6) Lys>Asn |
Context nucleotide sequence:
TTCGGGTGGACCCGGTCAACTTCAA [G/T] GTGAGCGGCGGGCCGGGAGCGATCT (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFNLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
Also known as: Hb Harlow
Comments: The lysine residue at α99(G6) is in the central cavity of the haemoglobin tetramer, situated in the region of the α1β1 contact. The Lys>Asn substitution was reported to bind β globin normally but to disrupt AHSP binding, thus destabilizing α globin. Variant was not associated with any haematological disturbance. Reported in a French Caucasian person during HbA1c screening.
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: | 37996 |
| Size: | 1 bp |
| Located at: | α1 |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | French |
| Molecular mechanism: | Altered α1β1 interface |
| 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
- Lacan P, Aubry M, Couprie N, Francina A, Two new alpha chain variants: Hb Die [alpha93(FG5)Val --> Ala (alpha1)] and Hb Beziers [alpha99(G6)Lys --> Asn (alpha1)]., Hemoglobin , 28(1), 59-63, 2004 PubMed
- Thom CS, Dickson CF, Gell DA, Weiss MJ, Hemoglobin variants: biochemical properties and clinical correlates., Cold Spring Harb Perspect Med, 3(3), a011858, 2013 PubMed
Created on 2010-06-16 16:13:16,
Last reviewed on 2019-06-24 09:07:42 (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 | 2014-04-14 16:02:56 | The IthaGenes Curation Team | Reviewed. Added common name, synonym, reference and ClinVar link. |
| 4 | 2015-12-03 16:59:10 | The IthaGenes Curation Team | Reviewed. Phenotype updated |
| 5 | 2019-06-21 14:29:06 | The IthaGenes Curation Team | Reviewed. Comment and Reference added. |
| 6 | 2019-06-24 09:07:42 | The IthaGenes Curation Team | Reviewed. |
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IthaGenes was last updated on 2023-03-22 16:46:31