IthaID: 588
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | Variant of Uncertain Significance |
|---|---|---|---|
| Common Name: | CD 64 GAC>AAC [Asp>Asn] | HGVS Name: | HBA2:c.193G>A |
| Hb Name: | Hb G-Waimanalo | Protein Info: | α2 64(E13) Asp>Asn |
| Also known as: | Hb Aida |
We follow the
HGVS sequence variant nomenclature
and
IUPAC standards.
Context nucleotide sequence:
TAAGGGCCACGGCAAGAAGGTGGCC [G/A] ACGCGCTGACCAACGCCGTGGCGCA (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVANALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR
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: | 34085 |
| 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: | Filipino, Indian, Romanian, Spanish |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Sequence Viewer
Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI.
Therefore, IthaGenes has no responsibility over any temporary unavailability of the service.
In such a case, please Refresh the page or retry at a later stage.
Otherwise, use this external link.
Publications / Origin
- Blackwell RQ, Jim RT, Tan TG, Weng MI, Liu CS, Wang CL, Hemoglobin G Waimanalo: alpha-64 Asp leads to Asn., Biochim. Biophys. Acta , 322(1), 27-33, 1973 PubMed
- Bunn HF, Altman AJ, Stangland K, Firshein SI, Forget B, Schmidt GJ, Jones RT, Hemoglobins Aida (alpha 64 Asp leads to Asn) and D-Los Angeles (beta 121 Glu leads to Gln) in an Asian-Indian family., Hemoglobin , 2(6), 531-40, 1978 PubMed
- Baine RM, Wright JM, Wilkinson RW, HB G Waimanalo (alpha 64 Asp replaced by Asn) in a child with homozygous beta-thalassemia., Hemoglobin , 3(4), 293-8, 1979 PubMed
- Harano T, Harano K, Ueda S, Shibata S, Imai K, Hemoglobin G Waimanalo [alpha 64 (E13) Asp replaced by Asn] in a Japanese. Hematologic, functional and synthesis studies., Hemoglobin , 5(6), 591-7, 1981 PubMed
- Manca L, Masala B, Manca M, Ferranti P, Pucci P, Hb G-Waimanalo [alpha 64(E13)Asp-->Asn] observed in a Caucasian family., Hemoglobin , 18(1), 53-6, 1994 PubMed
- Landin B, Berg P, Alpha 2-globin gene mutation Hb G-Waimanalo: occurrence in combination with alpha-thalassemia-1., Hemoglobin , 18(1), 71-2, 1994 PubMed
Created on 2010-06-16 16:13:15,
Last reviewed on 2022-07-08 13:42:11 (Show full history)
Disclaimer: The information on this website is provided as an information resource only
and must not to be used as a substitute for professional diagnosis and treatment.
The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment,
diagnosis or any other information, services or products that an individual obtains through this website.