IthaID: 4107
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 47 GAC>AAC [Asp>Asn] | HGVS Name: | HBA2:c.142G>A |
| Hb Name: | Hb Arya | Protein Info: | α2 47(CE5) Asp>Asn |
Context nucleotide sequence:
CACCAAGACCTACTTCCCGCACTTC [G/A] ACCTGAGCCACGGCTCTGCCCAGGT (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFNLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
Also known as:
Comments: Hb Arya was first described in an Iranian family in 1974. A recent report described Hb Arya in a Malaysian family. Both potentials were clinically asymptomatic. This abnormal haemoglobin has an electrophoretic mobility very close to that of Hb S, thereby mimicking an electrophoretic pattern of the Hb S carrier.
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: | N/A |
| 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: | Iranian, Malay |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Rahbar S, Mahdavi N, Nowzari G, Mostafavi I, Haemoglobin Arya: alpha 2-47 (CD5), aspartic acid yields asparagine., Biochim. Biophys. Acta , 386(2), 525-9, 1975
- Nahanthiran S, Nik Mustapha NH, Yasin N, Idris FB, Md Noor SB, Family study of haemoglobin Arya in a Malaysian family., Malays J Pathol, 46(2), 315-320, 2024
Created on 2024-09-05 12:58:21,
Last reviewed on 2024-09-05 13:01:20 (Show full history)
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