IthaID: 2952

Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 91 CTT>CGT [Leu>Arg] HGVS Name: HBA2:c.275T>G
Hb Name: Hb La Mancha Protein Info: α2 91(FG3) Leu>Arg

Protein sequence:

Also known as:

Comments: The mobility of Hb La Mancha [α2 CD91(FG3)(Leu → Arg)] is affected as a result of a change from an apolar to a polar, positively charged amino acid. Patient presented with a normal blood count and was clinically silent.

External Links


Chromosome: 16
Locus: NG_000006.1
Locus Location: 34167
Size: 1 bp
Located at: α2
Specific Location: Exon 2


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

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Spanish
Inheritance: Recessive
DNA Sequence Determined: Yes

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. de la Fuente-Gonzalo F, Nieto JM, Ricard P, Anguita J, Martínez R, Cervera A, Villegas A, González FA, Ropero P, Hb Cervantes, Hb Marañón, Hb La Mancha and Hb Goya: Description of 4 new haemoglobinopathies., Clin. Biochem. , 48(10), 662-7, 2015 PubMed
Created on 2016-08-23 10:15:38, Last reviewed on 2016-09-09 12:03:06 (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.