IthaID: 604
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Benign / Likely Benign |
|---|---|---|---|
| Common Name: | CD 72 CAC>CGC [His>Arg] | HGVS Name: | HBA2:c.218A>G |
| Hb Name: | Hb Daneshgah-Tehran | Protein Info: | α2 72(EF1) His>Arg |
Context nucleotide sequence:
GACGCGCTGACCAACGCCGTGGCGC [A/G] CGTGGACGACATGCCCAACGCGCTG (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVARVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
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: | 34110 |
| 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: | Argentine, Iranian |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Rahbar S, Nowazari G, Danéshmand P, Haemoglobin Daneshgah-Tehran alpha2 72 (EPI) histidine--arginine betaA2., Nature New Biol. , 245(148), 268-9, 1973
- de Weinstein BI, Kutlar A, Webber BB, Wilson JB, Huisman TH, Hemoglobin Daneshgah-Tehran or alpha 2(72) (EF1) His----Arg beta 2 in an Argentinean family., Hemoglobin , 9(4), 409-11, 1985
- Jorge SB, Melo MB, Costa FF, Sonati MF, Screening for mutations in human alpha-globin genes by nonradioactive single-strand conformation polymorphism., Braz. J. Med. Biol. Res. , 36(11), 1471-4, 2003
Created on 2010-06-16 16:13:16,
Last reviewed on 2021-04-07 11:46:47 (Show full history)
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