IthaID: 479
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Benign / Likely Benign |
|---|---|---|---|
| Common Name: | CD 20 CAC>CAA [His>Gln] | HGVS Name: | HBA2:c.63C>A |
| Hb Name: | Hb Le Lamentin | Protein Info: | α2 20(B1) His>Gln |
Context nucleotide sequence:
CCGCCTGGGGTAAGGTCGGCGCGCA [A/C] GCTGGCGAGTATGGTGCGGAGGCCC (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAQAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
Also known as:
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: | 33838 |
| Size: | 1 bp |
| Located at: | α2 |
| Specific Location: | Exon 1 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | English, French West Indies, Japanese, Spanish |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | No |
HPLC
Disclaimer: The HPLC images are provided as an information resource only.
Bio-Rad Laboratories, Inc and the ITHANET Portal disclaim responsibility and have no liability if this information is used for diagnostic or treatment purposes.
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 | ||
|---|---|---|---|---|---|---|---|---|---|
| 365 | Hb Le Lamentin | α2 | D-10 | Dual Kit Program | 28.8 | 1.38 | heterozygote | [PDF] | |
| 297 | Hb Le Lamentin | α2 | D-10 | Dual Kit Program | 24.8 | 1.36 | heterozygote | [PDF] | |
| 366 | Hb Le Lamentin | α2 | VARIANT | β-thal Short Program | 33 | 1.49 | heterozygote | [PDF] | |
| 298 | Hb Le Lamentin | α2 | VARIANT | β-thal Short Program | 25.4 | 1.51 | heterozygote | [PDF] | |
| 368 | Hb Le Lamentin | α2 | VARIANT II | Dual Kit Program | 29.1 | 1.47 | heterozygote | [PDF] | |
| 367 | Hb Le Lamentin | α2 | VARIANT II | β-thal Short Program | 5.6 | 1.66 | heterozygote | [PDF] | |
| 300 | Hb Le Lamentin | α2 | VARIANT II | Dual Kit Program | 25.5 | 1.41 | heterozygote | [PDF] | |
| 299 | Hb Le Lamentin | α2 | VARIANT II | β-thal Short Program | 25.6 | 1.49 | heterozygote | [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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Therefore, IthaGenes has no responsibility over any temporary unavailability of the service.
In such a case, please Refresh the page or retry at a later stage.
Otherwise, use this external link.
Publications / Origin
- Sellaye M, Blouquit Y, Galacteros F, Arous N, Monplaisir N, Rhoda MD, Braconnier F, Rosa J, A new silent hemoglobin variant in a black family from French West Indies, hemoglobin Le Lamentin alpha 20 His replaced by Gln., FEBS Lett. , 145(1), 128-30, 1982 PubMed
- Harano T, Harano K, Shibata S, Ueda S, Imai K, Tsuneshige A, Uchida E, Horiuchi K, Hb Le Lamentin [alpha 20 (B 1) His----Gln] in Japan: structure, function and biosynthesis., Hemoglobin , 7(2), 181-4, 1983 PubMed
- Malcorra-Azpiazu JJ, Balda-Aguirre MI, Diaz-Chico JC, Kutlar F, Kutlar A, Wilson JB, Hu H, Huisman TH, Hb Le Lamentin or alpha 2 20(B1)His----GLN beta 2 found in a Spanish family., Hemoglobin , 12(2), 201-5, 1988 PubMed
- 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 PubMed
- Reynolds TM, McMillan F, Smith A, Hutchinson A, Green B, Haemoglobin Le Lamentin (alpha 20 (B1) His-->Gln) in a British family: identification by electrospray mass spectrometry., J. Clin. Pathol. , 51(6), 467-70, 1998 PubMed
- Wiener K, McFarlane X, Green BN, Increasing recognition of haemoglobin Le Lamentin., J. Clin. Pathol. , 54(12), 970, 2001 PubMed
Created on 2010-06-16 16:13:15,
Last reviewed on 2014-03-13 09:14:15 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2010-06-16 16:13:15 | The IthaGenes Curation Team | Created |
| 2 | 2014-03-13 09:14:15 | The IthaGenes Curation Team | Reviewed. |
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IthaGenes was last updated on 2024-12-03 11:48:06