IthaID: 3758
Names and Sequences
Functionality: | Globin gene causative mutation | Pathogenicity: | Pathogenic / Likely Pathogenic |
---|---|---|---|
Common Name: | CD 126 GAC>AAC [Asp>Asn] | HGVS Name: | HBA2:c.379G>A |
Hb Name: | Hb Tarrant | Protein Info: | α2 126(H9) Asp>Asn |
Context nucleotide sequence:
CACCCCTGCGGTGCACGCCTCCCTG [G/A] ACAAGTTCCTGGCTTCTGTGAGCAC (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLNKFLASVSTVLTSKYR
Also known as:
Phenotype
Hemoglobinopathy Group: | Structural Haemoglobinopathy |
---|---|
Hemoglobinopathy Subgroup: | α-chain variant |
Allele Phenotype: | N/A |
Stability: | N/A |
Oxygen Affinity: | Increased Oxygen Affinity |
Associated Phenotypes: | N/A |
Location
Chromosome: | 16 |
---|---|
Locus: | NG_000006.1 |
Locus Location: | 34413 |
Size: | 1 bp |
Located at: | α2 |
Specific Location: | Exon 3 |
Other details
Type of Mutation: | Point-Mutation(Substitution) |
---|---|
Effect on Gene/Protein Function: | Missense codons (Protein Structure) |
Ethnic Origin: | Chinese |
Molecular mechanism: | N/A |
Inheritance: | Recessive |
DNA Sequence Determined: | Yes |
Sequence Viewer
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Publications / Origin
- Moo-Penn WF, Jue DL, Johnson MH, Wilson SM, Therrell B, Schmidt RM, Hemoglobin Tarrant: alpha126(H9) Asp leads to Asn. A new hemoglobin variant in the alpha1beta1 contact region showing high oxygen affinity and reduced cooperativity., Biochim. Biophys. Acta , 490(2), 443-51, 1977 PubMed
- Ibarra B, Vaca G, Cantú JM, Wilson JB, Lam H, Stallings M, Gravely ME, Huisman TH, Heterozygosity and homozygosity for the high oxygen affinity hemoglobin Tarrant or alpha 126 (H9) Asp replaced by Asn in two Mexican families., Hemoglobin , 5(4), 337-48, 1981 PubMed
- Ip KaLingRosalina,So JasonChi-Chiu,Law Man-Fai,Wong RaymondSM,Tam HoChi,Ng MargaretHL, Hb Tarrant [α126(H9)Asp→Asn; HBA2: c.379G > A (or HBA1)] in a Chinese Family as a Cause of Familial Erythrocytosis., Hemoglobin, 4(4), 260-3, 2017 PubMed
Created on 2021-03-31 21:09:22,
Last reviewed on 2021-03-31 21:12:07 (Show full history)
A/A | Date | Curator(s) | Comments |
---|---|---|---|
1 | 2021-03-31 21:09:22 | The IthaGenes Curation Team | Created |
2 | 2021-03-31 21:12:07 | The IthaGenes Curation Team | Reviewed. Links added. |
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IthaGenes was last updated on 2022-08-10 08:44:57