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.
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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
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
- Ostertag W, Smith EW, Hb Sinai, a new alpha chain mutant alpha his 47., Humangenetik , 6(4), 377-9, 1968
- 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
- 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
Created on 2014-06-05 10:43:47,
Last reviewed on 2022-04-20 13:02:38 (Show full history)
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