IthaID: 711

Names and Sequences

Functionality: Globin gene causative mutation
Common Name: CD 113 CTC>CGC [Leu>Arg] HGVS Name: HBA2:c.341T>G
Hb Name: Hb San Antonio Protein Info: α2 113(GH1) Leu>Arg

Context nucleotide sequence:

Protein sequence:

Comments: The site of the mutation is external; it is neither an heme nor an α/β contact. Stable to heat and isopropanol. Discovered in an asymptomatic and hematologically normal Caucasian individual.


Chromosome: 16
Locus: NG_000006.1
Locus Location: 34375
Size: 1 bp
Located at: α2
Specific Location: Exon 3


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: Caucasian
Inheritance: Recessive
DNA Sequence Determined: No
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Hoyer JD, McCormick DJ, Snow K, Kwon JH, Booth D, Duarte M, Grayson G, Kubik KS, Holmes MW, Fairbanks VF, Four new variants of the alpha2-globin gene without clinical or hematologic effects: Hb Park Ridge [alpha9(alpha7)Asn-->Lys (alpha2)], Hb Norton [alpha72(EF1)His-->Asp (alpha2)], Hb Lombard [alpha103(G10)His-->Tyr (alpha2)], and Hb San Antonio [A113(GH2)Leu-->Arg (A2)]., Hemoglobin , 26(2), 175-9, 2002 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2019-06-20 14:57:25 (Show full history)

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