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:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKRRVDPVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

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

Location

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

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

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
Detection Methods: Direct DNA sequencing

Sequence Viewer

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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)

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