IthaID: 2379

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: N/A
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

Also known as:

External Links


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


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

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Argentine
Molecular mechanism: Altered secondary structure
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Sequence Viewer

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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)

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