IthaID: 4017
Names and Sequences
| Functionality: | Globin gene causative mutation | Pathogenicity: | N/A |
|---|---|---|---|
| Common Name: | CD 139 AAA>TAA [Lys>STOP] | HGVS Name: | HBA1:c.418A>T |
| Hb Name: | Hb Nivaria | Protein Info: | α139(HC1)Lys>Stop |
Context nucleotide sequence:
TTCTGTGAGCACCGTGCTGACCTCC [A>T] AATACCGTTAAGCTGGAGCCTCGGT (Strand: +)
Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSX
Also known as: Tenerife
Comments: Reported as a heterozygote in a 39-year-old-male. Visible Hb X peak in HPLC (19.3%) at a retention time of 1.3 min. eluting before Hb A0. Visible HbX peak in CZE in zone 12 (20%).
We follow the HGVS sequence variant nomenclature and IUPAC standards.
External Links
No available 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: | 38263 |
| Size: | 1 bp |
| Located at: | α1 |
| Specific Location: | Exon 3 |
Other details
| Type of Mutation: | Point-Mutation(Substitution) |
|---|---|
| Effect on Gene/Protein Function: | Nonsense codon (Translation) |
| Ethnic Origin: | Spanish |
| Molecular mechanism: | N/A |
| Inheritance: | Recessive |
| DNA Sequence Determined: | Yes |
In silico pathogenicity prediction
Publications / Origin
- Ropero Gradilla P, Raya JM, González FA, Rochas S, Ferrer-Benito S, Nieto JM, Martín-Santos T, Barrios M, Gutiérrez-Murillo L, Villegas A, Benavente C, Hb Nivaria: A New Hemoglobin Variant with a Shortened -Globin Chain [139(HC1)LysStop; : c.418A>T]., Hemoglobin, 46(6), 344-346, 2022
Created on 2023-03-14 09:48:54,
Last reviewed on 2023-03-14 09:50:13 (Show full history)
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