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:

Protein sequence:

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


Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: α-chain variant
Allele Phenotype:N/A
Stability: N/A
Oxygen Affinity: N/A
Associated Phenotypes: N/A


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

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

  1. 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 PubMed
Created on 2023-03-14 09:48:54, Last reviewed on 2023-03-14 09:50:13 (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.