IthaID: 683



Names and Sequences

Functionality: Globin gene causative mutation
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:
CACGCGCACAAGCTTCGGGTGGACC [C/T] GGTCAACTTCAAGGTGAGCGGCGGG (Strand: +)

Protein sequence:
MVLSPADKTNVKAAWGKVGAHAGEYGAEALERMFLSFPTTKTYFPHFDLSHGSAQVKGHGKKVADALTNAVAHVDDMPNALSALSDLHAHKLRVDLVNFKLLSHCLLVTLAAHLPAEFTPAVHASLDKFLASVSTVLTSKYR

Location

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

Phenotype

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

Other details

Type of Mutation: Point-Mutation(Substitution)
Effect on Gene/Protein Function: Missense codons (Protein Structure)
Ethnic Origin: African, Portuguese
Inheritance: Recessive
DNA Sequence Determined: Yes
Detection Methods: Direct DNA sequencing

Sequence Viewer

Note: The NCBI Sequence Viewer is not installed on the ITHANET servers but it is embedded in this page from the NCBI. Therefore, IthaGenes has no responsibility over any temporary unavailability of the service. In such a case, please Refresh the page or retry at a later stage. Otherwise, use this external link.

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)

Disclaimer: The information on this website is provided as an information resource only and must not to be used as a substitute for professional diagnosis and treatment. The ITHANET Portal and IthaGenes are not responsible or liable for any advice, course of treatment, diagnosis or any other information, services or products that an individual obtains through this website.

Please publish modules in offcanvas position.