IthaID: 3651

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
Common Name: CD 117 CAC>CAG [His>Gln] HGVS Name: HBB:c.354C>G
Hb Name: Hb Murcia Protein Info: β 118(G19) His>Gln

Context nucleotide sequence:

Protein sequence:

Also known as:

Comments: Found in a 72-year-old female presented with normal haematological findings. HPLC analysis shown an abnormal band of 37.3%.

External Links


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


Chromosome: 11
Locus: NG_000007.3
Locus Location: 71928
Size: 1 bp
Located at: β
Specific Location: Exon 3

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
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. Fernández BG, Campuzano JBN, Rocamora DG, Nieto JM, Fernández FAG, Villegas A, Cuesta CB, Ropero P, Hb Murcia (β118(G19)His>Gln): A New Hemoglobin Variant Found in a Spanish Woman., Ann Lab Med, 41(5), 514-517, 2021 PubMed
Created on 2020-10-12 11:07:47, Last reviewed on 2022-07-12 11:45:44 (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.