IthaID: 1197

Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 116 CAT>CCT [His>Pro] HGVS Name: HBB:c.350A>C
Hb Name: Hb Miami Protein Info: β 116(G18) His>Pro

Context nucleotide sequence:

Protein sequence:

External Links


Chromosome: 11
Locus: NG_000007.3
Locus Location: 71924
Size: 1 bp
Located at: β
Specific Location: Exon 3


Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: β-chain variant
Allele Phenotype:N/A
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: Brazilian
Inheritance: Recessive
DNA Sequence Determined: No
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Hoyer JD, Baxter JK, Moran AM, Kubic KS, Ehmann WC, Two unstable beta chain variants associated with beta-thalassemia: Hb Miami [beta116(G18)his-->Pro], and Hb Hershey [beta70(E14)Ala-->Gly], and a second unstable Hb variant at 170: Hb Abington [beta70(E14)Ala-->Pro]., Hemoglobin , 29(4), 241-8, 2005 PubMed
Created on 2010-06-16 16:13:17, Last reviewed on 2014-04-15 17:40:07 (Show full history)

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