IthaID: 696
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 103 CAC>TAC [His>Tyr] | HGVS Name: | HBA2:c.310C>T |
| Hb Name: | Hb Lombard | Protein Info: | α2 103(G10) His>Tyr |
Context nucleotide sequence:
CCTCTTCTCTGCACAGCTCCTAAGC [C/T] ACTGCCTGCTGGTGACCCTGGCCGC (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSYCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
Also known as:
Comments: Mutation occurs at the site of an α1β1 contact. It disrupts binding to residues on the β chain, which disrupts α1β1 dimerization with subsequent accumulation of unstable free globin subunits. It also destabilizes free α chains by disrupting binding to the chaperone AHSP. It does not appear to have any haematological or clinical abnormalities.
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: | 34344 |
| Size: | 1 bp |
| Located at: | α2 |
| Specific Location: | Exon 3 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | Italian |
| Molecular mechanism: | Altered α1β1 interface |
| 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 | ||
|---|---|---|---|---|---|---|---|---|---|
| 165 | Hb Lombard | α2 | D-10 | Dual Kit Program | 0.5 | 2.55 | Heterozygous. Elutes as a shoulder in the descending part of the HbA peak. | [PDF] | |
| 166 | Hb Lombard | α2 | VARIANT | β-thal Short Program | 87 | 2.45 | Heterozygous. Elutes with HbA. | [PDF] | |
| 167 | Hb Lombard | α2 | VARIANT II | β-thal Short Program | 88.8 | 2.55 | Heterozygous. Elutes as a shoulder in the descending part of the HbA peak. | [PDF] | |
| 169 | Hb Lombard | α2 | VARIANT II | Dual Kit Program | 87.9 | 1.809 | Heterozygous. Elutes as a shoulder in the descending part of the HbA peak. | [PDF] |
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
- Hoyer JD, McCormick DJ, Snow K, Kwon JH, Booth D, Duarte M, Grayson G, Kubik KS, Holmes MW, Fairbanks VF, Four new variants of the alpha2-globin gene without clinical or hematologic effects: Hb Park Ridge [alpha9(alpha7)Asn-->Lys (alpha2)], Hb Norton [alpha72(EF1)His-->Asp (alpha2)], Hb Lombard [alpha103(G10)His-->Tyr (alpha2)], and Hb San Antonio [A113(GH2)Leu-->Arg (A2)]., Hemoglobin , 26(2), 175-9, 2002 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 2019-06-20 13:07:40 (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 16:29:20 | The IthaGenes Curation Team | Reviewed. Added common name, reference and ClinVar link. |
| 4 | 2015-12-03 16:44:05 | The IthaGenes Curation Team | Reviewed. Allele phenotype updated |
| 5 | 2019-06-20 13:07:40 | The IthaGenes Curation Team | Reviewed. Comment and Reference added. |
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IthaGenes was last updated on 2023-01-27 12:18:23