IthaID: 2379



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 6 GAG>GTG [Glu>Val] AND CD 105 CTC>CCC [Leu>Pro] HGVS Name: HBB:c.[20A>T ;317T>C]
Hb Name: Hb S-San Martin Protein Info: β 6(A3) Glu>Val AND β 105(G7) Leu>Pro

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: 71891
Size: 1 bp
Located at: β
Specific Location: Exon 1, Exon 3

Phenotype

Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: β-chain variant
Allele Phenotype:Sickling
Stability: Unstable
Oxygen Affinity: N/A
Associated Phenotypes: Haemolytic anaemia [HP:0001878]

Other details

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

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. Feliu-Torres A, Eberle SE, Bragós IM, Sciuccati G, Ojeda MJ, Calvo KL, Voss ME, Pratti AF, Milani AC, Bonduel M, Díaz L, Noguera NI, Hb S-San Martin: a new sickling hemoglobin with two amino acid substitutions [β6(A3)Glu→Val;β105(G7)Leu→Pro] in an Argentinean family., Hemoglobin , 34(5), 500-4, 2010 PubMed
Created on 2014-05-26 10:27:25, Last reviewed on (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.

Please publish modules in offcanvas position.