IthaID: 2500
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Benign / Likely Benign |
|---|---|---|---|
| Common Name: | CD 47 GAC>CAC [Asp>His] | HGVS Name: | HBA1:c.142G>C |
| Hb Name: | Hb Hasharon | Protein Info: | α1 47(CE5) Asp>His |
Context nucleotide sequence:
CACCAAGACCTACTTCCCGCACTTC [G/C] ACCTGAGCCACGGCTCTGCCCAGGT (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFHLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
Also known as: Hb L-Ferrara, Hb Michigan-I, Hb Michigan-II, Hb Sealy, Hb Sinai
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
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: | 37838 |
| 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: | Ashkenazi Jews, Brazilian, British |
| 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 | ||
|---|---|---|---|---|---|---|---|---|---|
| 429 | Hb Hasharon | α1 | D-10 | Dual Kit Program | 29.1 | 4.56 | Heterozygote with alpha 3.7. Clinically normal in heterozygote. | [PDF] | |
| 425 | Hb Hasharon | α1 | D-10 | Dual Kit Program | 25.4 | 4.56 | Heterozygote with alpha 3.7. Clinically normal in heterozygote. | [PDF] | |
| 273 | Hb Hasharon | α1 | D-10 | Dual Kit Program | 21.5 | 4.53 | heterozygote | [PDF] | |
| 430 | Hb Hasharon | α1 | VARIANT | β-thal Short Program | 27.9 | 4.74 | Heterozygote with alpha 3.7. Clinically normal in heterozygote. | [PDF] | |
| 426 | Hb Hasharon | α1 | VARIANT | β-thal Short Program | 25.7 | 4.74 | Heterozygote with alpha 3.7. Clinically normal in heterozygote. | [PDF] | |
| 274 | Hb Hasharon | α1 | VARIANT | β-thal Short Program | 19.5 | 4.74 | heterozygote | [PDF] | |
| 432 | Hb Hasharon | α1 | VARIANT II | Dual Kit Program | 27 | 4.207 | Heterozygote with alpha 3.7. Clinically normal in heterozygote. | [PDF] | |
| 428 | Hb Hasharon | α1 | VARIANT II | Dual Kit Program | 25.9 | 4.205 | Heterozygote with alpha 3.7. Clinically normal in heterozygote. | [PDF] | |
| 427 | Hb Hasharon | α1 | VARIANT II | β-thal Short Program | 27.1 | 4.82 | Heterozygote with alpha 3.7. Clinically normal in heterozygote. | [PDF] | |
| 276 | Hb Hasharon | α1 | VARIANT II | Dual Kit Program | 19.2 | 4.19 | heterozygote | [PDF] | |
| 275 | Hb Hasharon | α1 | VARIANT II | β-thal Short Program | 20 | 4.82 | 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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In such a case, please Refresh the page or retry at a later stage.
Otherwise, use this external link.
Publications / Origin
- Halbrecht I, Isaacs WA, Lehmann H, Ben-Porat F, Hemoglobin hasharon (alpha-47 aspartic acid--histidine)., Isr. J. Med. Sci. , 3(6), 827-31, 1967 PubMed
- Ostertag W, Smith EW, Hb Sinai, a new alpha chain mutant alpha his 47., Humangenetik , 6(4), 377-9, 1968 PubMed
- Schneider RG, Ueda S, Alperin JB, Brimhall B, Jones RT, Hemoglobin sealy (alpha 2-47His-beta 2): a new variant in a Jewish family., Am. J. Hum. Genet. , 20(2), 151-6, 1968 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
Created on 2014-06-05 10:43:47,
Last reviewed on 2022-04-20 13:02:38 (Show full history)
| A/A | Date | Curator(s) | Comments |
|---|---|---|---|
| 1 | 2014-06-05 10:43:47 | The IthaGenes Curation Team | Created |
| 2 | 2017-04-11 16:13:38 | The IthaGenes Curation Team | Reviewed. Mutation Names/DNA Info added. Links added. Reference added. |
| 3 | 2020-01-31 10:43:08 | The IthaGenes Curation Team | Reviewed. Edit |
| 4 | 2020-02-05 08:53:01 | The IthaGenes Curation Team | Reviewed. Reference deleted |
| 5 | 2022-04-20 13:02:38 | The IthaGenes Curation Team | Reviewed. Chromosome and locus location corrected. Link added. |
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IthaGenes was last updated on 2024-11-20 13:24:07