IthaID: 541
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
|---|---|---|---|
| Common Name: | CD 47 GAC>CAC [Asp>His] | HGVS Name: | HBA2:c.142G>C |
| Hb Name: | Hb Hasharon | Protein Info: | α2 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.
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: | 34034 |
| 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: | Ashkenazi Jews, Italian, German |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
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
- Charache S, Mondzac AM, Gessner U, Hemoglobin Hasharon (alpha-2-47 his(CD5)beta-2): a hemoglobin found in low concentration., J. Clin. Invest., 48(5), 834-47, 1969
- 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
- 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
- Zur B, Ludwig M, Stoffel-Wagner B, Hemoglobin Hasharon and hemoglobin NYU in subjects of German origin., Biochem Med (Zagreb), 21(3), 321-5, 2011
Created on 2010-06-16 16:13:15,
Last reviewed on 2022-04-20 12:53:01 (Show full history)
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