IthaID: 683

Names and Sequences

Functionality: Globin gene causative mutation Pathogenicity: Benign / Likely Benign
Common Name: CD 95 CCG>CTG [Pro>Leu] HGVS Name: HBA2:c.287C>T
Hb Name: Hb G-Georgia Protein Info: α2 95(G2) Pro>Leu

Context nucleotide sequence:

Protein sequence:

Also known as:

We follow the HGVS sequence variant nomenclature and IUPAC standards.


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


Chromosome: 16
Locus: NG_000006.1
Locus Location: 34179
Size: 1 bp
Located at: α2
Specific Location: Exon 2

Other details

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

In silico pathogenicity prediction

Sequence Viewer

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Publications / Origin

  1. Huisman TH, Adams HR, Wilson JB, Efremov GD, Reynolds CA, Wrightstone RN, Hemoglobin G Georgia or alpha 2-95 Leu (G-2) beta-2., Biochim. Biophys. Acta , 200(3), 578-80, 1970 PubMed
  2. Smith LL, Plese CF, Barton BP, Charache S, Wilson JB, Huisman TH, Subunit dissociation of the abnormal hemoglobins G Georgia ( 2 95Leu (G2) 2 ) and Rampa ( 2 95Ser (G2) 2 )., J. Biol. Chem. , 247(5), 1433-9, 1972 PubMed
  3. Wrightstone RN, Hubbard M, Huisman TH, Hemoglobin S-Ga Georgia disease: a case report., Acta Haematol. , 51(5), 315-20, 1974 PubMed
  4. North ML, Garel MC, Thillet J, Oberling F, Lang JM, Mayer S, Rosa J, [A new case of hemoglobin G Georgia (author's transl)]., Nouv Rev Fr Hematol , 15(4), 460-7, 1975 PubMed
  5. Molchanova TP, Huisman TH, The importance of the 3' untranslated region for the expression of the alpha-globin genes., Hemoglobin , 20(1), 41-54, 1996 PubMed
Created on 2010-06-16 16:13:16, Last reviewed on 2014-04-14 14:46:32 (Show full history)

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