IthaID: 465

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Benign / Likely Benign
Common Name: CD 15 GGT>CGT [Gly>Arg] HGVS Name: HBA1:c.46G>C
Hb Name: Hb Ottawa Protein Info: α1 15(A13) Gly>Arg

Context nucleotide sequence:

Protein sequence:

Also known as: Hb Siam

We follow the HGVS sequence variant nomenclature and IUPAC standards.


Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: α-chain variant
Allele Phenotype:N/A
Stability: N/A
Oxygen Affinity: N/A
Associated Phenotypes: N/A


Chromosome: 16
Locus: NG_000006.1
Locus Location: 37625
Size: 1 bp
Located at: α1
Specific Location: Exon 1

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: Canadian, Polish, Chinese, Thai
Molecular mechanism: N/A
Inheritance: Recessive
DNA Sequence Determined: Yes

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Pootrakul S, Srichiyanont S, Wasi P, Suanpan S, Hemoglobin Siam (alpha 2 15 arg beta 2): a new alpha-chain variant., Humangenetik , 23(3), 199-204, 1974 PubMed
  2. Turbpaiboon C, Svasti S, Sawangareetakul P, Winichagoon P, Srisomsap C, Siritanaratkul N, Fucharoen S, Wilairat P, Svasti J, Hb Siam [alpha15(A13)Gly-->Arg (alpha1) (GGT-->CGT)] is a typical alpha chain hemoglobinopathy without an alpha-thalassemic effect., Hemoglobin , 26(1), 77-81, 2002 PubMed
  3. Fucharoen S, Singsanan S, Hama A, Fucharoen G, Sanchaisuriya K, Rapid molecular characterization of Hb Queens and Hb Siam: two variants easily misidentified as sickle Hb., Clin Biochem, 40(0), 137-40, 2007 PubMed
Created on 2010-06-16 16:13:15, Last reviewed on 2021-03-11 16:49:56 (Show full history)

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