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.
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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 | ||
|---|---|---|---|---|---|---|---|---|---|
| 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
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
- 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
- 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
- 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
- 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
- Wiener K, McFarlane X, Green BN, Increasing recognition of haemoglobin Le Lamentin., J. Clin. Pathol. , 54(12), 970, 2001
Created on 2010-06-16 16:13:15,
Last reviewed on 2014-03-13 09:14:15 (Show full history)
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