IthaID: 626
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 78 AAC>AAG or AAA [Asn>Lys] | HGVS Name: | HBA2:c.[237C>A ;237C>G] |
| Hb Name: | Hb Stanleyville-II | Protein Info: | α2 78(EF7) Asn>Lys |
Context nucleotide sequence:
TGGCGCACGTGGACGACATGCCCAA [C/G] GCGCTGTCCGCCCTGAGCGACCTGC (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPKALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
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: | 34129 |
| Size: | 1 bp |
| Located at: | α2 |
| Specific Location: | Exon 2 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
| Ethnic Origin: | African |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
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 | ||
|---|---|---|---|---|---|---|---|---|---|
| 129 | Hb Stanleyville-II | α2 | D-10 | Dual Kit Program | 31.2 | 4.01 | Heterozygous. Clinically normal. | [PDF] | |
| 130 | Hb Stanleyville-II | α2 | VARIANT | β-thal Short Program | 29.9 | 4.18 | Heterozygous. Clinically normal. Elutes as HbS. | [PDF] | |
| 131 | Hb Stanleyville-II | α2 | VARIANT II | β-thal Short Program | 29.7 | 4.31 | Heterozygous. Clinically normal. Elutes as HbS. | [PDF] | |
| 132 | Hb Stanleyville-II | α2 | VARIANT II | Dual Kit Program | 32.1 | 3.401 | Heterozygous. Clinically normal. Elutes as HbS. | [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
- Van Ros G, Beale D, Lehmann H, Haemoglobin Stanleyville II (alpha asparagine replaced by lysine)., Br Med J , 4(5623), 92-3, 1968 PubMed
- North ML, Darbre PD, Lehmann H, Juif JG, Haemoglobin Stanleyville II (alpha75 [EF 7] Asn yeilds Lys) found in France., Acta Haematol. , 53(1), 56-9, 1975 PubMed
- Rhoda MD, Martin J, Blouquit Y, Garel MC, Edelstein SJ, Rosa J, Sickle cell hemoglobin fiber formation strongly inhibited by the Stanleyville II mutation (alpha 78 Asn leads to Lys)., Biochem. Biophys. Res. Commun. , 111(1), 8-13, 1983 PubMed
- Lacerra G, Fiorito M, Musollino G, Di Noce F, Esposito M, Nigro V, Gaudiano C, Carestia C, Sequence variations of the alpha-globin genes: scanning of high CG content genes with DHPLC and DG-DGGE., Hum. Mutat. , 24(4), 338-49, 2004 PubMed
- Moradkhani K, Préhu C, Old J, Henderson S, Balamitsa V, Luo HY, Poon MC, Chui DH, Wajcman H, Patrinos GP, Mutations in the paralogous human alpha-globin genes yielding identical hemoglobin variants., Ann. Hematol. , 88(6), 535-43, 2009 PubMed
- Silva MR, Sendin SM, Pimentel FS, Velloso-Rodrigues C, Romanha ÁJ, Viana MB, Hb Stanleyville-II [α78(EF7)Asn→Lys (α2); HbA2: c.237C>A]: incidence of 1:11,500 in a newborn screening program in Brazil., Hemoglobin , 36(4), 388-94, 2012 PubMed
Created on 2010-06-16 16:13:16,
Last reviewed on 2018-01-30 18:56:50 (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 | 2014-04-10 10:36:30 | The IthaGenes Curation Team | Reviewed. |
| 4 | 2014-06-05 11:41:55 | The IthaGenes Curation Team | Reviewed. Variation's location corrected. |
| 5 | 2015-08-13 11:24:14 | The IthaGenes Curation Team | Reviewed. Common name and HGVS name corrected. |
| 6 | 2018-01-30 18:56:50 | The IthaGenes Curation Team | Reviewed. Reference added. |
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IthaGenes was last updated on 2024-11-20 13:24:07